Variant report

Variant	rs376371073
Chromosome Location	chr2:96011171-96011172
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	CTCF	chr2:96011080-96011230	AoAF	blood vessel:	n/a	chr2:96011142-96011155
2	TCF7L2	chr2:96010942-96011935	Hela-S3	cervix:	n/a	chr2:96011880-96011887
3	RCOR1	chr2:96010737-96012375	IMR90	lung:	n/a	n/a
4	ZBTB7A	chr2:96011125-96012379	ECC-1	luminal epithelium:	n/a	chr2:96011148-96011156
5	TCF12	chr2:96011116-96012079	A549	lung:	n/a	chr2:96011382-96011389
6	KAP1	chr2:96011078-96011653	U2OS	brain:	n/a	n/a
7	MAX	chr2:96011099-96012889	MCF-7	breast:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
8	RCOR1	chr2:96011020-96011961	K562	blood:	n/a	n/a
9	MAZ	chr2:96011104-96012811	IMR90	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
10	CTCF	chr2:96011119-96011570	GM10248	blood:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
11	CTCF	chr2:96011019-96011937	HCT-116	colon:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
12	MAZ	chr2:96011094-96012333	Hela-S3	cervix:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
13	CTCF	chr2:96010910-96012000	SK-N-SH	brain:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
14	CREB1	chr2:96011153-96011749	A549	lung:	n/a	n/a
15	TCF12	chr2:96011124-96011755	ECC-1	luminal epithelium:	n/a	chr2:96011382-96011389
16	KAP1	chr2:96011095-96011914	HEK293	kidney:	n/a	n/a
17	MAX	chr2:96011005-96012353	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
18	BCL3	chr2:96011091-96011806	A549	lung:	n/a	chr2:96011397-96011410 chr2:96011396-96011409 chr2:96011716-96011729 chr2:96011717-96011726 chr2:96011718-96011731
19	HDAC2	chr2:96011113-96012036	MCF-7	breast:	n/a	chr2:96011549-96011563
20	RAD21	chr2:96011104-96011821	HCT-116	colon:	n/a	chr2:96011145-96011155 chr2:96011447-96011466 chr2:96011445-96011459
21	CTCF	chr2:96011098-96011594	GM12891	blood:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
22	TCF7L2	chr2:96011106-96012282	HCT-116	colon:	n/a	chr2:96011880-96011887
23	HMGN3	chr2:96011049-96013137	K562	blood:	n/a	n/a
24	JUND	chr2:96011147-96011610	H1-hESC	embryonic stem cell:	n/a	n/a
25	HA-E2F1	chr2:96011087-96012070	MCF-7	breast:	n/a	chr2:96011933-96011940 chr2:96011673-96011682 chr2:96012038-96012048 chr2:96011720-96011730 chr2:96011933-96011940 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96012041-96012051 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011933-96011940 chr2:96011443-96011452
26	MAX	chr2:96010932-96012931	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
27	CTCF	chr2:96011114-96011614	GM19238	blood:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
28	CTCF	chr2:96011117-96011660	GM12892	blood:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
29	MAX	chr2:96011139-96012989	ECC-1	luminal epithelium:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
30	ZNF263	chr2:96011116-96012083	HEK293-T-REx	kidney:	n/a	n/a
31	CTCF	chr2:96011135-96011614	GM19240	blood:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
32	SMARCB1	chr2:96011112-96012252	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr2:96011036-96011913	SK-N-SH	brain:	n/a	chr2:96011713-96011723 chr2:96011445-96011455
34	CTCF	chr2:96010974-96011979	A549	lung:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
35	NFIC	chr2:96011048-96012489	ECC-1	luminal epithelium:	n/a	n/a
36	RAD21	chr2:96011125-96011794	A549	lung:	n/a	chr2:96011145-96011155 chr2:96011447-96011466 chr2:96011445-96011459
37	CTCF	chr2:96011078-96011709	IMR90	lung:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
38	RAD21	chr2:96011126-96011860	HCT-116	colon:	n/a	chr2:96011145-96011155 chr2:96011447-96011466 chr2:96011445-96011459
39	MAX	chr2:96011137-96011829	SK-N-SH	brain:	n/a	chr2:96011161-96011170
40	POLR2A	chr2:96011154-96012309	MCF10A-Er-Src	breast:	n/a	n/a
41	RAD21	chr2:96011170-96011730	H1-hESC	embryonic stem cell:	n/a	chr2:96011447-96011466 chr2:96011445-96011459
42	RAD21	chr2:96011123-96011835	ECC-1	luminal epithelium:	n/a	chr2:96011145-96011155 chr2:96011447-96011466 chr2:96011445-96011459
43	CTCF	chr2:96011149-96011246	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
2	chr2:96011035..96011867-chr2:96054738..96055589,3	MCF-7	breast:
3	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
4	chr2:95988885..95989833-chr2:96011018..96011890,3	MCF-7	breast:
5	chr2:96009340..96011395-chr2:96014535..96017221,2	K562	blood:
6	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
7	chr2:96011050..96011912-chr2:96394384..96395342,2	MCF-7	breast:
8	chr2:95988846..95989673-chr2:96011074..96011939,2	K562	blood:
9	chr2:95995977..95996824-chr2:96011072..96011837,2	MCF-7	breast:
10	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:

Variant related genes	Relation type
KCNIP3	TF binding region
ENSG00000155066	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv582496	chr2:95999856-96020029	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv829578	chr2:96010192-96015186	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3321815	chr2:96010750-96013598	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96008800-96011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:96009200-96011200	Enhancers	NHEK	skin
3	chr2:96010000-96011400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:96010800-96011200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:96010800-96011200	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr2:96010800-96011200	Bivalent Enhancer	Primary T cells from cord blood	blood
7	chr2:96010800-96011200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
9	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:96010800-96011200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
12	chr2:96010800-96011200	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr2:96010800-96011400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr2:96010800-96011400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:96010800-96011400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr2:96010800-96011400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:96010800-96011400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:96010800-96011400	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr2:96010800-96011400	Enhancers	Spleen	Spleen
20	chr2:96010800-96011600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:96010800-96011800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:96010800-96012000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:96011000-96011200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr2:96011000-96011200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr2:96011000-96011200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:96011000-96011200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr2:96011000-96011200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:96011000-96011200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:96011000-96011200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:96011000-96011200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr2:96011000-96011200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr2:96011000-96011200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr2:96011000-96011200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr2:96011000-96011200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr2:96011000-96011200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:96011000-96011200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:96011000-96011200	Enhancers	Liver	Liver
39	chr2:96011000-96011200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr2:96011000-96011200	Enhancers	Brain Substantia Nigra	brain
41	chr2:96011000-96011200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr2:96011000-96011200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:96011000-96011200	Bivalent Enhancer	Esophagus	oesophagus
44	chr2:96011000-96011200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr2:96011000-96011200	Enhancers	Fetal Brain Male	brain
46	chr2:96011000-96011200	Bivalent Enhancer	Fetal Heart	heart
47	chr2:96011000-96011200	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr2:96011000-96011200	Enhancers	Fetal Kidney	kidney
49	chr2:96011000-96011200	Enhancers	Left Ventricle	heart
50	chr2:96011000-96011200	Enhancers	Ovary	ovary

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