Variant report

Variant	rs528538970
Chromosome Location	chr9:140470699-140470700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:140470125-140470899	GM12878	blood:	n/a	n/a
2	ATF1	chr9:140469909-140470724	K562	blood:	n/a	n/a
3	PAX5	chr9:140470492-140470866	GM12878	blood:	n/a	chr9:140470695-140470704
4	EBF1	chr9:140470433-140470748	GM12878	blood:	n/a	n/a
5	SMC3	chr9:140470397-140470716	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:140470549-140470776	GM12878	blood:	n/a	n/a
7	PAX5	chr9:140470427-140470980	GM12878	blood:	n/a	chr9:140470695-140470704
8	MXI1	chr9:140470135-140470901	GM12878	blood:	n/a	n/a
9	JUN	chr9:140469731-140470857	K562	blood:	n/a	n/a
10	CTCF	chr9:140470420-140470710	GM12865	blood:	n/a	n/a
11	PAX5	chr9:140470472-140470914	GM12892	blood:	n/a	chr9:140470695-140470704
12	FOS	chr9:140470650-140470970	MCF10A-Er-Src	breast:	n/a	n/a
13	RUNX3	chr9:140470319-140471048	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:140470425-140470889	K562	blood:	n/a	n/a
15	BHLHE40	chr9:140470544-140470870	GM12878	blood:	n/a	n/a
16	RAD21	chr9:140470419-140470788	MCF-7	breast:	n/a	n/a
17	MYC	chr9:140470585-140470737	MCF-7	breast:	n/a	n/a
18	ELF1	chr9:140470686-140471017	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:140470563-140470741	MCF-7	breast:	n/a	n/a
20	PAX5	chr9:140470416-140470860	GM12878	blood:	n/a	chr9:140470695-140470704
21	RUNX3	chr9:140470345-140471009	GM12878	blood:	n/a	n/a
22	PAX5	chr9:140470600-140470782	GM12878	blood:	n/a	chr9:140470695-140470704
23	EBF1	chr9:140470357-140470769	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:140470533-140470826	GM12878	blood:	n/a	n/a
25	FOS	chr9:140470665-140470970	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr9:140470354-140470713	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:140470628-140470818	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr9:140470685-140470970	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140469278..140479132-chr9:140503165..140510984,27	MCF-7	breast:
2	chr9:140469283..140475998-chr9:140510945..140517022,12	K562	blood:
3	chr9:140470139..140471923-chr9:140487419..140488929,2	MCF-7	breast:
4	chr9:140470526..140476841-chr9:140479974..140487037,14	MCF-7	breast:
5	chr9:140444476..140446866-chr9:140469262..140473127,6	MCF-7	breast:
6	chr9:140470600..140473358-chr9:140498484..140501413,2	K562	blood:
7	chr9:140470445..140476327-chr9:140498022..140503450,9	K562	blood:
8	chr9:140147652..140150242-chr9:140468793..140471743,2	MCF-7	breast:

No data

Variant related genes	Relation type
DPH7	TF binding region
ENSG00000165724	Chromatin interaction
ENSG00000181090	Chromatin interaction
ENSG00000203993	Chromatin interaction
ENSG00000188986	Chromatin interaction
ENSG00000130653	Chromatin interaction
ENSG00000182154	Chromatin interaction
ENSG00000197070	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv894499	chr9:139810595-140734161	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv894502	chr9:139823670-140487108	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
4	nsv531664	chr9:140110329-140725056	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	275 gene(s)	inside rSNPs	diseases
5	nsv531654	chr9:140110329-141033187	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	281 gene(s)	inside rSNPs	diseases
6	nsv1047563	chr9:140219047-140560852	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv540357	chr9:140219047-140560852	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv531602	chr9:140240417-140535223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	96 gene(s)	inside rSNPs	diseases
9	nsv932633	chr9:140240417-141053535	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
10	nsv1035524	chr9:140251014-140751633	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
11	nsv1053628	chr9:140260666-141005637	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
12	nsv534215	chr9:140286134-141008915	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	n/a
13	nsv1035388	chr9:140306746-140654768	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	96 gene(s)	inside rSNPs	n/a
14	nsv831762	chr9:140338779-140514107	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	n/a
15	nsv1039672	chr9:140343466-140707505	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	n/a
16	nsv540358	chr9:140343466-140707505	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	n/a
17	nsv1041512	chr9:140350404-140612859	Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	n/a
18	nsv540359	chr9:140350404-140612859	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	n/a
19	nsv616022	chr9:140372570-140523429	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	n/a
20	nsv616023	chr9:140372570-140602887	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	n/a
21	nsv531603	chr9:140378700-140590977	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	n/a
22	nsv531665	chr9:140378700-141073897	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	n/a
23	nsv868924	chr9:140407572-141053525	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	n/a
24	nsv1039933	chr9:140408112-141005637	Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	n/a
25	nsv531666	chr9:140409395-141015925	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	n/a
26	nsv616024	chr9:140414410-140536098	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	n/a
27	nsv831763	chr9:140439831-140614021	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	n/a
28	nsv540364	chr9:140447860-140514807	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	n/a
29	esv3398333	chr9:140451462-140814795	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	n/a
30	nsv1052036	chr9:140452641-141018985	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	n/a
31	nsv540365	chr9:140452641-141018985	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	n/a
32	nsv949702	chr9:140466816-141027939	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	n/a
33	nsv531667	chr9:140468821-140936261	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	n/a
34	nsv894665	chr9:140469600-140523429	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	n/a
35	nsv894666	chr9:140470564-140518576	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
3	chr9:140453000-140471400	Weak transcription	Fetal Brain Male	brain
4	chr9:140463000-140471000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr9:140463000-140471000	Strong transcription	Fetal Intestine Small	intestine
6	chr9:140463000-140471400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:140463000-140471400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:140463000-140471600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:140463000-140471600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:140463200-140471200	Strong transcription	A549	lung
11	chr9:140463200-140471600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:140464200-140471000	Strong transcription	Thymus	Thymus
13	chr9:140464600-140471200	Strong transcription	Fetal Intestine Large	intestine
14	chr9:140464600-140471600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:140464600-140471600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:140464800-140470800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:140464800-140470800	Strong transcription	Fetal Thymus	thymus
18	chr9:140464800-140470800	Strong transcription	Rectal Smooth Muscle	rectum
19	chr9:140464800-140471000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr9:140464800-140471000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:140464800-140471000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:140464800-140471000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr9:140464800-140471200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:140464800-140471600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:140465000-140471000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:140465000-140471200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:140465200-140470800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:140465200-140471000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:140465400-140470800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:140465800-140471000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr9:140466000-140470800	Strong transcription	Lung	lung
32	chr9:140466000-140471000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr9:140466200-140470800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:140466200-140470800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:140466400-140470800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:140466400-140470800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:140466400-140471000	Strong transcription	Fetal Lung	lung
38	chr9:140466400-140471400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:140466400-140471400	Strong transcription	Primary T cells from cord blood	blood
40	chr9:140466400-140471600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:140466600-140470800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:140466600-140470800	Strong transcription	NHLF	lung
43	chr9:140466800-140470800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:140467400-140472000	Weak transcription	Fetal Kidney	kidney
45	chr9:140468400-140471000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr9:140468600-140470800	Genic enhancers	Left Ventricle	heart
47	chr9:140468600-140471000	Genic enhancers	Right Ventricle	heart
48	chr9:140468600-140471600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:140468800-140470800	Strong transcription	Colonic Mucosa	Colon
50	chr9:140468800-140471600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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