Variant report

Variant	rs536483753
Chromosome Location	chr9:140444535-140444536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr9:140444106-140445181	MCF-7	breast:	n/a	n/a
2	POLR2A	chr9:140444367-140444540	MCF-7	breast:	n/a	n/a
3	NFIC	chr9:140444364-140445154	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr9:140444462-140445187	A549	lung:	n/a	chr9:140444876-140444885 chr9:140444732-140444739
5	HDAC2	chr9:140444192-140445154	MCF-7	breast:	n/a	n/a
6	MXI1	chr9:140444463-140445161	IMR90	lung:	n/a	n/a
7	ELF1	chr9:140444311-140445168	MCF-7	breast:	n/a	n/a
8	SIN3A	chr9:140444385-140445088	H1-hESC	embryonic stem cell:	n/a	chr9:140444890-140444899
9	MAX	chr9:140444197-140445252	MCF-7	breast:	n/a	chr9:140444510-140444519 chr9:140444888-140444899 chr9:140444889-140444898
10	MAX	chr9:140444480-140445144	HCT-116	colon:	n/a	chr9:140444510-140444519 chr9:140444888-140444899 chr9:140444889-140444898
11	HA-E2F1	chr9:140444237-140445023	MCF-7	breast:	n/a	n/a
12	MAX	chr9:140444336-140445067	GM12878	blood:	n/a	chr9:140444510-140444519 chr9:140444888-140444899 chr9:140444889-140444898
13	POLR2A	chr9:140444305-140444578	H1-neurons	neurons:	n/a	n/a
14	ELF1	chr9:140444269-140445141	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr9:140444126-140445211	MCF-7	breast:	n/a	n/a
16	MXI1	chr9:140444170-140445294	SK-N-SH	brain:	n/a	n/a
17	JUN	chr9:140444169-140445082	K562	blood:	n/a	n/a
18	POLR2A	chr9:140444302-140444543	H1-neurons	neurons:	n/a	n/a
19	NR2F2	chr9:140444106-140445303	MCF-7	breast:	n/a	n/a
20	MAX	chr9:140444132-140445181	MCF-7	breast:	n/a	chr9:140444510-140444519 chr9:140444888-140444899 chr9:140444889-140444898
21	RFX5	chr9:140444473-140444615	GM12878	blood:	n/a	n/a
22	EBF1	chr9:140444227-140444545	GM12878	blood:	n/a	n/a
23	FOXA1	chr9:140444341-140445115	T-47D	breast:	n/a	chr9:140444874-140444889

No.	Distal block	Cell Line	Cell type
1	chr9:140441799..140446269-chr9:140505086..140508400,5	MCF-7	breast:
2	chr9:140443479..140444983-chr9:140499290..140501657,2	K562	blood:
3	chr9:140317304..140318861-chr9:140444413..140447408,2	K562	blood:
4	chr9:140443274..140446260-chr9:140471876..140474598,3	K562	blood:
5	chr9:140444528..140447263-chr9:140504669..140508200,5	MCF-7	breast:
6	chr9:140444055..140447780-chr9:140498087..140502451,7	MCF-7	breast:
7	chr9:140443433..140448155-chr9:140497818..140502870,8	MCF-7	breast:
8	chr9:140444243..140447461-chr9:140473220..140477204,4	MCF-7	breast:
9	chr9:140444476..140446866-chr9:140469262..140473127,6	MCF-7	breast:
10	chr9:140118466..140120300-chr9:140443395..140446342,2	MCF-7	breast:
11	chr9:140193137..140197903-chr9:140443164..140449787,14	MCF-7	breast:
12	chr9:140443475..140446294-chr9:140484220..140486836,3	MCF-7	breast:
13	chr9:140444420..140448721-chr9:140471876..140474832,3	K562	blood:

Variant related genes	Relation type
MRPL41	TF binding region
PNPLA7	TF binding region
ENSG00000148399	Chromatin interaction
ENSG00000197191	Chromatin interaction
ENSG00000187609	Chromatin interaction
ENSG00000197070	Chromatin interaction
ENSG00000198435	Chromatin interaction
ENSG00000188747	Chromatin interaction
ENSG00000165724	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	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	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
3	nsv894487	chr9:139725120-140449582	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv894523	chr9:139860631-140462099	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	nsv894663	chr9:140382705-140454791	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
27	nsv540362	chr9:140401645-140452700	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	n/a
28	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
29	nsv540363	chr9:140408112-140447920	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
30	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
31	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
32	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
33	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
34	nsv894664	chr9:140442503-140454791	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a
35	esv3370668	chr9:140444156-140447004	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140429800-140444600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:140429800-140444600	Weak transcription	NH-A	brain
3	chr9:140431800-140444800	Weak transcription	Dnd41	blood
4	chr9:140435400-140444600	Weak transcription	Aorta	Aorta
5	chr9:140437400-140444600	Weak transcription	Fetal Kidney	kidney
6	chr9:140442000-140445000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr9:140442800-140444600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:140443200-140444800	Enhancers	Spleen	Spleen
9	chr9:140443400-140444600	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:140443400-140445000	Enhancers	Fetal Heart	heart
11	chr9:140443600-140444600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:140444000-140444600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr9:140444000-140444600	Flanking Active TSS	Pancreas	Pancrea
14	chr9:140444000-140444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:140444000-140444800	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr9:140444000-140444800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr9:140444000-140445000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr9:140444000-140445000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr9:140444000-140445000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr9:140444000-140445000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr9:140444000-140447200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr9:140444200-140444600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:140444200-140444600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr9:140444200-140444600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:140444200-140444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:140444200-140444600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:140444200-140444600	Enhancers	Fetal Lung	lung
28	chr9:140444200-140444600	Flanking Active TSS	Ovary	ovary
29	chr9:140444200-140444600	Enhancers	K562	blood
30	chr9:140444200-140444800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:140444200-140444800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:140444200-140444800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:140444200-140444800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:140444200-140444800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr9:140444200-140444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:140444200-140444800	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr9:140444200-140444800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr9:140444200-140444800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr9:140444200-140444800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:140444200-140444800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr9:140444200-140444800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr9:140444200-140444800	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr9:140444200-140444800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr9:140444200-140444800	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr9:140444200-140445000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:140444200-140445000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:140444200-140445000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:140444200-140445000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:140444200-140445000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:140444200-140445000	Flanking Active TSS	Liver	Liver

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