Variant report

Variant	rs532176598
Chromosome Location	chr2:10091126-10091127
allele	C/T
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	ZNF143	chr2:10091099-10092064	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:10091018-10092287	MCF-7	breast:	n/a	n/a
3	ELF1	chr2:10090670-10091561	GM12878	blood:	n/a	n/a
4	CHD2	chr2:10091060-10091421	K562	blood:	n/a	chr2:10091371-10091381
5	CREB1	chr2:10091064-10091386	A549	lung:	n/a	n/a
6	POLR2A	chr2:10091059-10092346	HepG2	liver:	n/a	n/a
7	CTCF	chr2:10091120-10091270	AoAF	blood vessel:	n/a	n/a
8	UBTF	chr2:10091092-10091577	K562	blood:	n/a	n/a
9	NRF1	chr2:10091069-10092077	SK-N-SH	brain:	n/a	chr2:10091615-10091626 chr2:10091508-10091517
10	SIN3A	chr2:10090873-10091374	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr2:10091121-10091857	K562	blood:	n/a	chr2:10091466-10091480
12	REST	chr2:10091010-10092234	H1-neurons	neurons:	n/a	chr2:10091109-10091122 chr2:10091112-10091125 chr2:10091135-10091145
13	MAZ	chr2:10091126-10092096	GM12878	blood:	n/a	n/a
14	HMGN3	chr2:10090855-10092433	K562	blood:	n/a	n/a
15	MAX	chr2:10089602-10092724	HepG2	liver:	n/a	n/a
16	CHD2	chr2:10091095-10091874	GM12878	blood:	n/a	chr2:10091738-10091748 chr2:10091371-10091381
17	MAX	chr2:10090969-10092273	A549	lung:	n/a	n/a
18	BACH1	chr2:10090910-10091402	H1-hESC	embryonic stem cell:	n/a	n/a
19	PAX5	chr2:10090922-10091444	GM12892	blood:	n/a	chr2:10091169-10091178 chr2:10091055-10091064
20	TAF1	chr2:10091115-10092436	HepG2	liver:	n/a	n/a
21	ZBTB7A	chr2:10091056-10091443	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr2:10091075-10091648	K562	blood:	n/a	n/a
23	HDAC2	chr2:10090796-10091431	HepG2	liver:	n/a	n/a
24	MAX	chr2:10090824-10091389	HepG2	liver:	n/a	n/a
25	ELF1	chr2:10091075-10091480	K562	blood:	n/a	n/a
26	YY1	chr2:10090797-10092544	HepG2	liver:	n/a	chr2:10091531-10091542 chr2:10091171-10091182 chr2:10091791-10091805 chr2:10091045-10091059 chr2:10091777-10091791 chr2:10092345-10092354
27	CTCF	chr2:10091026-10091664	K562	blood:	n/a	n/a
28	CEBPD	chr2:10090968-10091418	HepG2	liver:	n/a	n/a
29	MAZ	chr2:10091110-10092401	HepG2	liver:	n/a	n/a
30	EBF1	chr2:10091028-10091369	GM12878	blood:	n/a	n/a
31	MXI1	chr2:10090590-10092089	IMR90	lung:	n/a	n/a
32	PAX5	chr2:10091084-10091311	GM12878	blood:	n/a	chr2:10091169-10091178
33	E2F6	chr2:10091041-10091430	K562	blood:	n/a	n/a
34	MAX	chr2:10089567-10092486	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr2:10090935-10091633	PANC-1	pancreas:	n/a	n/a
36	BHLHE40	chr2:10091050-10091462	GM12878	blood:	n/a	n/a
37	CTCF	chr2:10091120-10091270	GM12870	blood:	n/a	n/a
38	PAX5	chr2:10090987-10091468	GM12878	blood:	n/a	chr2:10091169-10091178 chr2:10091055-10091064
39	POLR2A	chr2:10091101-10091466	GM12892	blood:	n/a	n/a
40	RCOR1	chr2:10090616-10092938	IMR90	lung:	n/a	n/a
41	CHD2	chr2:10091049-10091404	HepG2	liver:	n/a	chr2:10091371-10091381
42	POLR2A	chr2:10091067-10092237	K562	blood:	n/a	n/a
43	MAX	chr2:10090833-10092623	MCF-7	breast:	n/a	n/a
44	POLR2A	chr2:10091042-10092276	ECC-1	luminal epithelium:	n/a	n/a
45	YY1	chr2:10090978-10091425	GM12878	blood:	n/a	chr2:10091171-10091182 chr2:10091045-10091059
46	HCFC1	chr2:10091035-10091458	K562	blood:	n/a	n/a
47	CCNT2	chr2:10090860-10092444	K562	blood:	n/a	chr2:10092345-10092354
48	RCOR1	chr2:10091110-10092207	K562	blood:	n/a	n/a
49	POLR2A	chr2:10091063-10091672	K562	blood:	n/a	n/a
50	BHLHE40	chr2:10091078-10091363	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9768803..9771575-chr2:10089760..10091656,2	MCF-7	breast:
2	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
3	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
4	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
5	chr2:10089749..10091694-chr2:10096424..10099200,2	K562	blood:
6	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
7	chr2:9962243..9964669-chr2:10088779..10091216,2	MCF-7	breast:
8	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
9	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
10	chr2:10090511..10093177-chr2:10182491..10184266,3	MCF-7	breast:
11	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
12	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
13	chr2:10090081..10091760-chr2:10195035..10197397,2	K562	blood:
14	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:
15	chr2:10085922..10087593-chr2:10089321..10091253,3	K562	blood:

Variant related genes	Relation type
GRHL1	TF binding region
ENSG00000240687	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3409366	chr2:10090126-10092874	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3369173	chr2:10090451-10093249	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3326017	chr2:10090726-10093274	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10090000-10092800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:10090200-10092600	Active TSS	Gastric	stomach
3	chr2:10090400-10091200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:10090400-10091200	Flanking Active TSS	Placenta	Placenta
5	chr2:10090400-10091200	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr2:10090400-10091400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr2:10090400-10093000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:10090600-10091200	Flanking Active TSS	Dnd41	blood
9	chr2:10090600-10091400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:10090600-10091400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr2:10090600-10092400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:10090600-10092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10090600-10092600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:10090600-10092600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:10090600-10092600	Active TSS	Colon Smooth Muscle	Colon
16	chr2:10090600-10092800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10090600-10092800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:10090600-10092800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:10090600-10092800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:10090600-10092800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:10090600-10092800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:10090600-10092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:10090600-10092800	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr2:10090800-10091200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:10090800-10091200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:10090800-10091200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:10090800-10091200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:10090800-10091200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr2:10090800-10091200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:10090800-10091200	Flanking Active TSS	Pancreas	Pancrea
31	chr2:10090800-10091200	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr2:10090800-10091200	Flanking Active TSS	Spleen	Spleen
33	chr2:10090800-10091200	Flanking Active TSS	HMEC	breast
34	chr2:10090800-10091200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr2:10090800-10091400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:10090800-10091400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr2:10090800-10091400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr2:10090800-10091400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:10090800-10091400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:10090800-10091400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:10090800-10091400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:10090800-10091400	Flanking Active TSS	Right Ventricle	heart
43	chr2:10090800-10091400	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:10090800-10092200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:10090800-10092200	Active TSS	HSMM	muscle
46	chr2:10090800-10092200	Active TSS	NH-A	brain
47	chr2:10090800-10092400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:10090800-10092400	Active TSS	Primary T cells from cord blood	blood
49	chr2:10090800-10092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:10090800-10092400	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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