Variant report

Variant	rs369182131
Chromosome Location	chr6:30883723-30883724
allele	G/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	chr6:30883036-30883836	HCT-116	colon:	n/a	chr6:30883454-30883473
2	CTCF	chr6:30881367-30884041	SK-N-SH	brain:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
3	RAD21	chr6:30882997-30883889	HCT-116	colon:	n/a	chr6:30883454-30883473
4	POLR2A	chr6:30883417-30884112	K562	blood:	n/a	n/a
5	CTCF	chr6:30883145-30883803	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
6	POLR2A	chr6:30881501-30883780	SK-N-MC	brain:	n/a	n/a
7	RAD21	chr6:30883210-30883774	HepG2	liver:	n/a	chr6:30883454-30883473
8	BHLHE40	chr6:30883403-30883759	K562	blood:	n/a	n/a
9	POLR2A	chr6:30881436-30884176	HepG2	liver:	n/a	n/a
10	RAD21	chr6:30883183-30883754	MCF-7	breast:	n/a	chr6:30883454-30883473
11	RAD21	chr6:30883199-30883819	MCF-7	breast:	n/a	chr6:30883454-30883473
12	TEAD4	chr6:30881721-30883771	K562	blood:	n/a	n/a
13	RAD21	chr6:30882942-30884015	SK-N-SH	brain:	n/a	chr6:30883454-30883473
14	RAD21	chr6:30883162-30883755	IMR90	lung:	n/a	chr6:30883454-30883473
15	CTCF	chr6:30882881-30883783	A549	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
16	CTCF	chr6:30883275-30883724	K562	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
17	RAD21	chr6:30883192-30883781	A549	lung:	n/a	chr6:30883454-30883473
18	RAD21	chr6:30883181-30883759	H1-hESC	embryonic stem cell:	n/a	chr6:30883454-30883473
19	CTCF	chr6:30883680-30883830	HRPEpiC	eye:	n/a	n/a
20	RAD21	chr6:30883150-30883835	A549	lung:	n/a	chr6:30883454-30883473
21	CTCF	chr6:30883092-30883759	K562	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
22	RAD21	chr6:30883170-30883750	ECC-1	luminal epithelium:	n/a	chr6:30883454-30883473
23	CTCF	chr6:30882830-30883937	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
24	SMC3	chr6:30883185-30883757	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr6:30882823-30884061	SK-N-SH	brain:	n/a	n/a
26	NR2F2	chr6:30881705-30883792	K562	blood:	n/a	n/a
27	RAD21	chr6:30883048-30883840	H1-hESC	embryonic stem cell:	n/a	chr6:30883454-30883473

No.	Distal block	Cell Line	Cell type
1	chr6:30883403..30884976-chr6:30908264..30911485,3	MCF-7	breast:
2	chr6:30883149..30883983-chr6:31038127..31038765,2	MCF-7	breast:
3	chr6:30883032..30883759-chr6:31011810..31012818,4	MCF-7	breast:
4	chr6:30793814..30798702-chr6:30880453..30884092,5	K562	blood:
5	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
6	chr6:30523025..30525668-chr6:30880813..30884106,3	K562	blood:
7	chr6:30882935..30883738-chr6:31047207..31048204,5	MCF-7	breast:
8	chr6:30882943..30883998-chr6:31010336..31011408,3	MCF-7	breast:
9	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
10	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
11	chr6:30883250..30883934-chr6:31010475..31011616,5	MCF-7	breast:
12	chr6:30882873..30883896-chr6:31038173..31038772,3	K562	blood:
13	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:
14	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
15	chr6:30789462..30790321-chr6:30882992..30883906,2	K562	blood:
16	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:

Variant related genes	Relation type
VARS2	TF binding region
ENSG00000137411	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000168631	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv523346	chr6:30882513-30893941	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30881400-30884200	Active TSS	Esophagus	oesophagus
2	chr6:30882200-30883800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:30882200-30883800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:30882200-30883800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr6:30882200-30884000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr6:30882600-30883800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30882600-30884000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:30882600-30884000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:30882600-30884000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:30882600-30884800	Weak transcription	Aorta	Aorta
11	chr6:30882600-30885000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:30882600-30885000	Enhancers	Lung	lung
13	chr6:30882600-30886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:30882800-30883800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:30882800-30883800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:30882800-30883800	Enhancers	Gastric	stomach
17	chr6:30882800-30883800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:30882800-30883800	Enhancers	Psoas Muscle	Psoas
19	chr6:30882800-30883800	Enhancers	Right Atrium	heart
20	chr6:30882800-30883800	Enhancers	Right Ventricle	heart
21	chr6:30882800-30883800	Enhancers	A549	lung
22	chr6:30882800-30883800	Enhancers	Osteobl	bone
23	chr6:30882800-30884000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:30882800-30884000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:30882800-30884000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:30882800-30884000	Enhancers	Left Ventricle	heart
27	chr6:30882800-30884000	Enhancers	Spleen	Spleen
28	chr6:30882800-30884200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:30882800-30884200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:30882800-30884200	Enhancers	Fetal Brain Male	brain
31	chr6:30882800-30884600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:30882800-30884600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:30882800-30884600	Weak transcription	Ovary	ovary
34	chr6:30882800-30884800	Enhancers	HUVEC	blood vessel
35	chr6:30882800-30890200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:30882800-30890200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:30883000-30883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:30883000-30883800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:30883000-30883800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:30883000-30883800	Enhancers	Fetal Intestine Large	intestine
41	chr6:30883000-30883800	Enhancers	Fetal Kidney	kidney
42	chr6:30883000-30883800	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:30883000-30883800	Enhancers	Placenta	Placenta
44	chr6:30883000-30884000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:30883000-30884000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:30883000-30884000	Enhancers	Brain Angular Gyrus	brain
47	chr6:30883000-30884000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:30883000-30884000	Genic enhancers	Fetal Stomach	stomach
49	chr6:30883000-30884000	Enhancers	Pancreas	Pancrea
50	chr6:30883000-30884000	Enhancers	NHDF-Ad	bronchial

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