Variant report

Variant	rs577589927
Chromosome Location	chr2:96011736-96011737
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	NR2F2	chr2:96011249-96012068	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr2:96010942-96011935	Hela-S3	cervix:	n/a	chr2:96011880-96011887
3	MAX	chr2:96011341-96011923	K562	blood:	n/a	n/a
4	MAX	chr2:96011344-96011755	K562	blood:	n/a	n/a
5	SIN3AK20	chr2:96011724-96012207	PANC-1	pancreas:	n/a	n/a
6	MYC	chr2:96011352-96011766	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr2:96011206-96012770	K562	blood:	n/a	chr2:96012075-96012084
8	MAX	chr2:96011203-96011946	A549	lung:	n/a	n/a
9	POLR2A	chr2:96011585-96011809	ProgFib	skin:	n/a	n/a
10	RCOR1	chr2:96010737-96012375	IMR90	lung:	n/a	n/a
11	ZBTB7A	chr2:96011125-96012379	ECC-1	luminal epithelium:	n/a	chr2:96011148-96011156
12	JUN	chr2:96011328-96011754	K562	blood:	n/a	n/a
13	MYC	chr2:96011278-96011912	NB4	blood:	n/a	n/a
14	CTCF	chr2:96011703-96011770	Pancreas_OC	pancreas:	n/a	n/a
15	POLR2A	chr2:96011195-96012004	PANC-1	pancreas:	n/a	n/a
16	TCF12	chr2:96011116-96012079	A549	lung:	n/a	chr2:96011382-96011389
17	POLR2A	chr2:96011406-96011833	Hela-S3	cervix:	n/a	n/a
18	E2F6	chr2:96011243-96011913	H1-hESC	embryonic stem cell:	n/a	chr2:96011673-96011682 chr2:96011720-96011730 chr2:96011569-96011580 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011443-96011452
19	BACH1	chr2:96011313-96011814	K562	blood:	n/a	n/a
20	STAT3	chr2:96011537-96012112	MCF10A-Er-Src	breast:	n/a	chr2:96011925-96011945
21	SIN3A	chr2:96011232-96011761	H1-hESC	embryonic stem cell:	n/a	chr2:96011397-96011408 chr2:96011459-96011470
22	CTCF	chr2:96011238-96011833	K562	blood:	n/a	chr2:96011445-96011458
23	ZBTB7A	chr2:96011243-96012365	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr2:96011323-96012323	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr2:96011099-96012889	MCF-7	breast:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
26	RCOR1	chr2:96011020-96011961	K562	blood:	n/a	n/a
27	MAZ	chr2:96011104-96012811	IMR90	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
28	JUND	chr2:96011291-96011816	K562	blood:	n/a	n/a
29	CTCF	chr2:96011019-96011937	HCT-116	colon:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
30	CTCF	chr2:96011235-96011805	K562	blood:	n/a	chr2:96011445-96011458
31	MAZ	chr2:96011094-96012333	Hela-S3	cervix:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
32	CTCF	chr2:96010910-96012000	SK-N-SH	brain:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
33	POLR2A	chr2:96011270-96011762	HCT-116	colon:	n/a	n/a
34	RAD21	chr2:96011250-96011782	MCF-7	breast:	n/a	chr2:96011447-96011466 chr2:96011445-96011459
35	E2F4	chr2:96011323-96012266	K562	blood:	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
36	E2F4	chr2:96011199-96011818	MCF10A-Er-Src	breast:	n/a	chr2:96011673-96011682 chr2:96011720-96011730 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011443-96011452
37	CREB1	chr2:96011153-96011749	A549	lung:	n/a	n/a
38	CTCF	chr2:96011700-96011850	HEK293	kidney:	n/a	n/a
39	TCF12	chr2:96011124-96011755	ECC-1	luminal epithelium:	n/a	chr2:96011382-96011389
40	RCOR1	chr2:96011222-96012276	K562	blood:	n/a	n/a
41	KAP1	chr2:96011095-96011914	HEK293	kidney:	n/a	n/a
42	MAX	chr2:96011005-96012353	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
43	STAT3	chr2:96011305-96012116	MCF10A-Er-Src	breast:	n/a	chr2:96011925-96011945
44	STAT3	chr2:96011443-96012071	MCF10A-Er-Src	breast:	n/a	chr2:96011925-96011945
45	MAX	chr2:96011288-96011881	NB4	blood:	n/a	n/a
46	SMC3	chr2:96011299-96011853	K562	blood:	n/a	chr2:96011713-96011723 chr2:96011445-96011455
47	POLR2A	chr2:96011331-96012314	K562	blood:	n/a	n/a
48	BCL3	chr2:96011091-96011806	A549	lung:	n/a	chr2:96011397-96011410 chr2:96011396-96011409 chr2:96011716-96011729 chr2:96011717-96011726 chr2:96011718-96011731
49	HDAC2	chr2:96011113-96012036	MCF-7	breast:	n/a	chr2:96011549-96011563
50	CTCF	chr2:96011718-96011754	GM19240	blood:	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	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
6	chr2:96011050..96011912-chr2:96394384..96395342,2	MCF-7	breast:
7	chr2:95988846..95989673-chr2:96011074..96011939,2	K562	blood:
8	chr2:95995977..95996824-chr2:96011072..96011837,2	MCF-7	breast:
9	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:
10	chr2:95989028..95989730-chr2:96011177..96011785,3	MCF-7	breast:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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
18	esv3437070	chr2:96011450-96013998	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3504135	chr2:96011525-96013598	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3504136	chr2:96011525-96013598	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv829579	chr2:96011563-96014374	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96010800-96011800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:96010800-96012000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:96011000-96011800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr2:96011000-96011800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:96011000-96011800	Flanking Active TSS	Colonic Mucosa	Colon
7	chr2:96011000-96011800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr2:96011000-96011800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
9	chr2:96011000-96011800	Flanking Active TSS	HMEC	breast
10	chr2:96011000-96011800	Bivalent/Poised TSS	Osteobl	bone
11	chr2:96011000-96012000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
13	chr2:96011000-96012000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:96011000-96012000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr2:96011000-96012000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
18	chr2:96011000-96012000	Flanking Active TSS	Right Ventricle	heart
19	chr2:96011000-96012000	Active TSS	HSMMtube	muscle
20	chr2:96011000-96012200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:96011000-96012200	Active TSS	K562	blood
22	chr2:96011000-96012800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:96011000-96012800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:96011000-96012800	Active TSS	Brain Anterior Caudate	brain
25	chr2:96011000-96012800	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:96011000-96013000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:96011000-96013000	Active TSS	Aorta	Aorta
28	chr2:96011000-96013200	Active TSS	HSMM	muscle
29	chr2:96011200-96011800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
32	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr2:96011200-96011800	Flanking Active TSS	Pancreas	Pancrea
34	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:96011200-96012000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:96011200-96012000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:96011200-96012000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
40	chr2:96011200-96012000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr2:96011200-96012000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr2:96011200-96012000	Flanking Active TSS	Liver	Liver
45	chr2:96011200-96012000	Active TSS	Brain Substantia Nigra	brain
46	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr2:96011200-96012000	Bivalent Enhancer	Fetal Brain Male	brain
48	chr2:96011200-96012000	Active TSS	Fetal Kidney	kidney
49	chr2:96011200-96012200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr2:96011200-96012200	Active TSS	Colon Smooth Muscle	Colon

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