Variant report

Variant	rs34373582
Chromosome Location	chr2:96011324-96011325
allele	-/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	RAD21	chr2:96011233-96011705	HepG2	liver:	n/a	chr2:96011447-96011466 chr2:96011445-96011459
2	CTCF	chr2:96011304-96011616	Spleen_OC	spleen:	n/a	chr2:96011445-96011458
3	NR2F2	chr2:96011249-96012068	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:96011297-96011561	HepG2	liver:	n/a	chr2:96011445-96011458
5	TCF7L2	chr2:96010942-96011935	Hela-S3	cervix:	n/a	chr2:96011880-96011887
6	CTCF	chr2:96011279-96011592	Gliobla	brain:	n/a	chr2:96011445-96011458
7	YY1	chr2:96011273-96011636	HepG2	liver:	n/a	chr2:96011441-96011455 chr2:96011397-96011408
8	CTCF	chr2:96011284-96011589	MCF-7	breast:	n/a	chr2:96011445-96011458
9	CCNT2	chr2:96011206-96012770	K562	blood:	n/a	chr2:96012075-96012084
10	MAX	chr2:96011203-96011946	A549	lung:	n/a	n/a
11	MAX	chr2:96011212-96011628	H1-hESC	embryonic stem cell:	n/a	n/a
12	ETS1	chr2:96011299-96011513	K562	blood:	n/a	n/a
13	TCF7L2	chr2:96011249-96011671	PANC-1	pancreas:	n/a	n/a
14	HCFC1	chr2:96011321-96011725	K562	blood:	n/a	n/a
15	CTCF	chr2:96011321-96011572	GM13976	blood:	n/a	chr2:96011445-96011458
16	HDAC2	chr2:96011263-96011565	K562	blood:	n/a	chr2:96011549-96011563
17	RCOR1	chr2:96010737-96012375	IMR90	lung:	n/a	n/a
18	ZBTB7A	chr2:96011125-96012379	ECC-1	luminal epithelium:	n/a	chr2:96011148-96011156
19	CTCF	chr2:96011222-96011654	H1-hESC	embryonic stem cell:	n/a	chr2:96011445-96011458
20	CTCF	chr2:96011320-96011470	GM06990	blood:	n/a	chr2:96011445-96011458
21	CEBPB	chr2:96011221-96011511	Hela-S3	cervix:	n/a	n/a
22	MYC	chr2:96011278-96011912	NB4	blood:	n/a	n/a
23	POLR2A	chr2:96011195-96012004	PANC-1	pancreas:	n/a	n/a
24	CTCF	chr2:96011320-96011470	HRE	kidney:	n/a	chr2:96011445-96011458
25	TCF12	chr2:96011116-96012079	A549	lung:	n/a	chr2:96011382-96011389
26	CTCF	chr2:96011303-96011592	LNCaP	prostate:	n/a	chr2:96011445-96011458
27	CTCF	chr2:96011320-96011470	GM12872	blood:	n/a	chr2:96011445-96011458
28	CTCF	chr2:96011300-96011450	NHEK	skin:	n/a	n/a
29	CTCF	chr2:96011298-96011597	Pancreas_OC	pancreas:	n/a	chr2:96011445-96011458
30	YY1	chr2:96011301-96011590	H1-hESC	embryonic stem cell:	n/a	chr2:96011441-96011455 chr2:96011397-96011408
31	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
32	RAD21	chr2:96011305-96011580	K562	blood:	n/a	chr2:96011447-96011466 chr2:96011445-96011459
33	KAP1	chr2:96011078-96011653	U2OS	brain:	n/a	n/a
34	SMC3	chr2:96011304-96011682	HepG2	liver:	n/a	chr2:96011445-96011455
35	BACH1	chr2:96011313-96011814	K562	blood:	n/a	n/a
36	CTCF	chr2:96011293-96011591	A549	lung:	n/a	chr2:96011445-96011458
37	RAD21	chr2:96011254-96011645	Hela-S3	cervix:	n/a	chr2:96011447-96011466 chr2:96011445-96011459
38	SIN3A	chr2:96011232-96011761	H1-hESC	embryonic stem cell:	n/a	chr2:96011397-96011408 chr2:96011459-96011470
39	CTCF	chr2:96011320-96011470	GM12864	blood:	n/a	chr2:96011445-96011458
40	CTCF	chr2:96011238-96011833	K562	blood:	n/a	chr2:96011445-96011458
41	ZBTB7A	chr2:96011243-96012365	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr2:96011323-96012323	MCF10A-Er-Src	breast:	n/a	n/a
43	MAX	chr2:96011099-96012889	MCF-7	breast:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
44	MYC	chr2:96011290-96011640	K562	blood:	n/a	n/a
45	RCOR1	chr2:96011020-96011961	K562	blood:	n/a	n/a
46	MAZ	chr2:96011104-96012811	IMR90	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
47	JUND	chr2:96011291-96011816	K562	blood:	n/a	n/a
48	RAD21	chr2:96011192-96011703	HepG2	liver:	n/a	chr2:96011447-96011466 chr2:96011445-96011459
49	MAFK	chr2:96011278-96011642	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr2:96011119-96011570	GM10248	blood:	n/a	chr2:96011445-96011458 chr2:96011142-96011155

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96011321-96011371	NHBE	bronchial:	n/a
2	chr2:96011321-96011371	AG04449	skin:	fetal
3	chr2:96011321-96011371	HL-60	blood:	n/a
4	chr2:96011321-96011371	MCF-7	breast:	n/a
5	chr2:96011321-96011371	HCM	heart:	n/a
6	chr2:96011321-96011371	MCF10A-Er-Src	breast:	n/a
7	chr2:96011321-96011371	PrEC	prostate:	n/a
8	chr2:96011321-96011371	ECC-1	luminal epithelium:	n/a
9	chr2:96011321-96011371	HAEpiC	amniotic membrane:	n/a
10	chr2:96011321-96011371	RPTEC	kidney:	n/a
11	chr2:96011321-96011371	BJ	skin:	n/a
12	chr2:96011321-96011371	GM12892	blood:	n/a
13	chr2:96011321-96011371	AoSMC	blood vessel:	n/a
14	chr2:96011321-96011371	PANC-1	pancreas:	n/a
15	chr2:96011321-96011371	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:96011321-96011371	HUVEC	blood vessel:	n/a
17	chr2:96011321-96011371	Jurkat	blood:	n/a
18	chr2:96011321-96011371	GM12891	blood:	n/a
19	chr2:96011321-96011371	HNPCEpiC	eye:	n/a
20	chr2:96011321-96011371	A549	lung:	n/a
21	chr2:96011321-96011371	AG09309	skin:	n/a
22	chr2:96011321-96011371	BE2_C	brain:	n/a
23	chr2:96011321-96011371	SKMC	muscle:	n/a
24	chr2:96011321-96011371	H1-hESC	embryonic stem cell:	embryo
25	chr2:96011321-96011371	GM06990	blood:	n/a
26	chr2:96011321-96011371	LNCaP	prostate:	n/a
27	chr2:96011321-96011371	U87	brain:	n/a
28	chr2:96011321-96011371	HepG2	liver:	n/a
29	chr2:96011321-96011371	Hela-S3	cervix:	n/a
30	chr2:96011321-96011371	ProgFib	skin:	n/a
31	chr2:96011321-96011371	NB4	blood:	n/a
32	chr2:96011321-96011371	Caco-2	colon:	n/a
33	chr2:96011321-96011371	T-47D	breast:	n/a
34	chr2:96011321-96011371	AG09319	gingival:	n/a
35	chr2:96011321-96011371	HRE	kidney:	n/a
36	chr2:96011321-96011371	AG10803	skin:	n/a
37	chr2:96011321-96011371	HMEC	breast:	n/a
38	chr2:96011321-96011371	HRCEpiC	kidney:	n/a
39	chr2:96011321-96011371	CMK	blood:	n/a
40	chr2:96011321-96011371	HCPEpiC	choroid plexus:	n/a
41	chr2:96011321-96011371	HEEpiC	esophagus:	n/a
42	chr2:96011321-96011371	Hepatocyte	liver:	n/a
43	chr2:96011321-96011371	HIPEpiC	eye:	n/a
44	chr2:96011321-96011371	SAEC	small airway:	n/a
45	chr2:96011321-96011371	HCF	heart:	n/a
46	chr2:96011321-96011371	K562	blood:	n/a
47	chr2:96011321-96011371	HRPEpiC	eye:	n/a
48	chr2:96011321-96011371	PFSK-1	brain:	n/a
49	chr2:96011321-96011371	NHDF-neo	bronchial:	n/a
50	chr2:96011321-96011371	GM12878	blood:	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:
11	chr2:95989028..95989730-chr2:96011177..96011785,3	MCF-7	breast:

Variant related genes	Relation type
KCNIP3	TF binding region
KCNIP3	CpG island
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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96010000-96011400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:96010800-96011400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr2:96010800-96011400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:96010800-96011400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
5	chr2:96010800-96011400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:96010800-96011400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:96010800-96011400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr2:96010800-96011400	Enhancers	Spleen	Spleen
9	chr2:96010800-96011600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:96010800-96011800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:96010800-96012000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:96011000-96011400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr2:96011000-96011400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:96011000-96011400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:96011000-96011400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:96011000-96011400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr2:96011000-96011400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr2:96011000-96011400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:96011000-96011400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:96011000-96011400	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr2:96011000-96011400	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr2:96011000-96011400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:96011000-96011400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
25	chr2:96011000-96011400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr2:96011000-96011400	Enhancers	Lung	lung
27	chr2:96011000-96011400	Flanking Active TSS	Right Atrium	heart
28	chr2:96011000-96011400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr2:96011000-96011400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr2:96011000-96011400	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr2:96011000-96011400	Flanking Bivalent TSS/Enh	A549	lung
32	chr2:96011000-96011400	Flanking Active TSS	Hela-S3	cervix
33	chr2:96011000-96011600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:96011000-96011600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:96011000-96011600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr2:96011000-96011600	Bivalent Enhancer	Placenta	Placenta
37	chr2:96011000-96011600	Bivalent Enhancer	Fetal Thymus	thymus
38	chr2:96011000-96011800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr2:96011000-96011800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:96011000-96011800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr2:96011000-96011800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr2:96011000-96011800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr2:96011000-96011800	Flanking Active TSS	HMEC	breast
44	chr2:96011000-96011800	Bivalent/Poised TSS	Osteobl	bone
45	chr2:96011000-96012000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
47	chr2:96011000-96012000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr2:96011000-96012000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:96011000-96012000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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