Variant report

Variant	rs2018284
Chromosome Location	chr6:5611082-5611083
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	RAD21	chr6:5610819-5611237	HepG2	liver:	n/a	chr6:5611030-5611039 chr6:5611212-5611231 chr6:5611217-5611229
2	CTCF	chr6:5611040-5611190	HMEC	breast:	n/a	n/a
3	CTCF	chr6:5610940-5611090	HCPEpiC	choroid plexus:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
4	RAD21	chr6:5610940-5611110	SK-N-SH_RA	brain:	n/a	chr6:5611030-5611039
5	RAD21	chr6:5610926-5611166	SK-N-SH_RA	brain:	n/a	chr6:5611030-5611039
6	MYC	chr6:5610988-5611200	K562	blood:	n/a	chr6:5611073-5611084 chr6:5611074-5611084 chr6:5611074-5611084 chr6:5611072-5611085 chr6:5611075-5611084
7	CTCF	chr6:5610940-5611090	Caco-2	colon:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
8	CTCF	chr6:5610980-5611130	HRPEpiC	eye:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
9	CTCF	chr6:5611020-5611170	GM12873	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
10	CTCF	chr6:5610960-5611110	HEK293	kidney:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
11	CTCF	chr6:5610940-5611090	HBMEC	blood vessel:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
12	RAD21	chr6:5610934-5611196	HepG2	liver:	n/a	chr6:5611030-5611039
13	CTCF	chr6:5610940-5611090	AG04450	lung:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
14	CTCF	chr6:5610990-5611136	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
15	RAD21	chr6:5610919-5611208	H1-hESC	embryonic stem cell:	n/a	chr6:5611030-5611039
16	CTCF	chr6:5610940-5611090	WERI-Rb-1	eye:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
17	CTCF	chr6:5610940-5611090	HVMF	connective:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
18	CTCF	chr6:5611004-5611113	H1-hESC	embryonic stem cell:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
19	CTCF	chr6:5611020-5611170	HepG2	liver:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
20	RAD21	chr6:5610956-5611173	HepG2	liver:	n/a	chr6:5611030-5611039
21	CTCF	chr6:5611020-5611170	GM12874	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
22	RAD21	chr6:5610897-5611170	H1-hESC	embryonic stem cell:	n/a	chr6:5611030-5611039
23	CTCF	chr6:5611018-5611094	A549	lung:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
24	CTCF	chr6:5611049-5611123	GM12892	blood:	n/a	n/a
25	SMC3	chr6:5610951-5611123	HepG2	liver:	n/a	chr6:5611030-5611044
26	CTCF	chr6:5610960-5611110	HFF-Myc	foreskin:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
27	CTCF	chr6:5610960-5611110	HBMEC	blood vessel:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
28	CTCF	chr6:5611000-5611150	HEK293	kidney:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
29	CTCF	chr6:5610960-5611110	Hela-S3	cervix:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
30	CTCF	chr6:5610960-5611110	WERI-Rb-1	eye:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
31	CTCF	chr6:5610975-5611136	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
32	CTCF	chr6:5610940-5611090	HRE	kidney:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
33	CTCF	chr6:5610960-5611110	BE2_C	brain:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
34	CTCF	chr6:5611038-5611144	Fibrobl	skin:	n/a	n/a
35	CTCF	chr6:5611026-5611152	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
36	RAD21	chr6:5610876-5611242	H1-hESC	embryonic stem cell:	n/a	chr6:5611030-5611039 chr6:5611217-5611229 chr6:5611212-5611231
37	CTCF	chr6:5611020-5611170	GM12872	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
38	CTCF	chr6:5611015-5611143	MCF-7	breast:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
39	CTCF	chr6:5611020-5611170	BE2_C	brain:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
40	CTCF	chr6:5610906-5611156	HepG2	liver:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
41	CTCF	chr6:5610940-5611090	K562	blood:	n/a	chr6:5611031-5611040 chr6:5611033-5611043 chr6:5611028-5611046
42	MAX	chr6:5610948-5611238	K562	blood:	n/a	chr6:5611073-5611084 chr6:5611074-5611084 chr6:5611074-5611084 chr6:5611072-5611085 chr6:5611075-5611084

Variant related genes	Relation type
HNRNPA1P37	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9405847	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv600887	chr6:5545046-5694713	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1016905	chr6:5566364-5639167	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1015549	chr6:5593965-5630468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv969345	chr6:5608180-5611406	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2018284	RIPK1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5577400-5639800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5581000-5614200	Weak transcription	Lung	lung
3	chr6:5581000-5640400	Weak transcription	Gastric	stomach
4	chr6:5587200-5619400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5590800-5622000	Weak transcription	Right Atrium	heart
6	chr6:5591200-5619000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:5591600-5626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:5592200-5619200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:5593400-5621000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:5603800-5614000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:5605600-5618800	Weak transcription	Primary T cells from cord blood	blood
12	chr6:5605600-5619200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:5605800-5617200	Weak transcription	Left Ventricle	heart
14	chr6:5607200-5614200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:5609800-5613800	Weak transcription	Ovary	ovary
16	chr6:5610400-5620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:5610600-5641000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:5611000-5611400	Enhancers	Pancreas	Pancrea

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