Variant report

Variant	rs61888888
Chromosome Location	chr11:57103684-57103685
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	MAFK	chr11:57103255-57103692	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:57103640-57103790	Caco-2	colon:	n/a	n/a
3	SIN3AK20	chr11:57103274-57103718	A549	lung:	n/a	n/a
4	CREB1	chr11:57102562-57103714	HepG2	liver:	n/a	n/a
5	CTCF	chr11:57103291-57103751	K562	blood:	n/a	n/a
6	MXI1	chr11:57102626-57103845	GM12878	blood:	n/a	n/a
7	BCLAF1	chr11:57103120-57103707	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:57101788-57103856	PFSK-1	brain:	n/a	n/a
9	ELK4	chr11:57103301-57103743	Hela-S3	cervix:	n/a	chr11:57103338-57103347 chr11:57103338-57103346
10	GABPA	chr11:57103054-57103744	HL-60	blood:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
11	MTA3	chr11:57103276-57104028	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:57102537-57103740	H1-hESC	embryonic stem cell:	n/a	n/a
13	HA-E2F1	chr11:57103280-57103896	MCF-7	breast:	n/a	chr11:57103307-57103318 chr11:57103307-57103319 chr11:57103308-57103315 chr11:57103308-57103315 chr11:57103308-57103315
14	POLR2A	chr11:57103263-57103702	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:57102445-57104122	HL-60	blood:	n/a	n/a
16	POLR2A	chr11:57102859-57103714	GM18526	blood:	n/a	n/a
17	POLR2A	chr11:57102843-57104190	GM19099	blood:	n/a	n/a
18	POLR2A	chr11:57103223-57103720	PANC-1	pancreas:	n/a	n/a
19	STAT5A	chr11:57103155-57103787	GM12878	blood:	n/a	chr11:57103605-57103617
20	POLR2A	chr11:57102661-57103953	IMR90	lung:	n/a	n/a
21	POLR2A	chr11:57102804-57103810	GM18951	blood:	n/a	n/a
22	POLR2A	chr11:57103204-57103724	SK-N-SH	brain:	n/a	n/a
23	MXI1	chr11:57101617-57104042	SK-N-SH	brain:	n/a	n/a
24	GABPA	chr11:57103090-57103911	SK-N-SH	brain:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
25	POLR2A	chr11:57102884-57104181	HL-60	blood:	n/a	n/a
26	E2F6	chr11:57102750-57103910	K562	blood:	n/a	chr11:57103307-57103319 chr11:57103308-57103315 chr11:57103307-57103315 chr11:57103308-57103315 chr11:57103308-57103315 chr11:57103268-57103277
27	POLR2A	chr11:57102590-57103815	GM12878	blood:	n/a	n/a
28	E2F4	chr11:57103015-57103711	MCF10A-Er-Src	breast:	n/a	chr11:57103306-57103317 chr11:57103307-57103319 chr11:57103308-57103315 chr11:57103307-57103315 chr11:57103308-57103315 chr11:57103308-57103315 chr11:57103268-57103277
29	POLR2A	chr11:57102605-57103813	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr11:57102648-57103980	GM12892	blood:	n/a	n/a
31	TBL1XR1	chr11:57103273-57103917	K562	blood:	n/a	n/a
32	JUND	chr11:57102344-57103960	GM12878	blood:	n/a	chr11:57103263-57103272
33	POLR2A	chr11:57103128-57103699	GM12891	blood:	n/a	n/a
34	MYC	chr11:57102553-57103693	K562	blood:	n/a	n/a
35	POLR2A	chr11:57102835-57103702	GM12878	blood:	n/a	n/a
36	HDAC2	chr11:57103282-57103693	HepG2	liver:	n/a	chr11:57103313-57103322
37	EBF1	chr11:57103281-57103821	GM12878	blood:	n/a	n/a
38	ATF2	chr11:57103118-57103805	GM12878	blood:	n/a	n/a
39	MAX	chr11:57102638-57103716	A549	lung:	n/a	n/a
40	POLR2A	chr11:57102519-57103880	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:57102820-57104268	Raji	blood:	n/a	n/a
42	CEBPB	chr11:57103271-57103731	GM12878	blood:	n/a	n/a
43	RELA	chr11:57103225-57103806	GM19099	blood:	n/a	n/a
44	POLR2A	chr11:57102835-57103692	NB4	blood:	n/a	n/a
45	MYC	chr11:57102633-57103898	NB4	blood:	n/a	n/a
46	MAZ	chr11:57102291-57104264	IMR90	lung:	n/a	n/a
47	HCFC1	chr11:57102792-57103769	K562	blood:	n/a	n/a
48	REST	chr11:57102938-57103918	HL-60	blood:	n/a	n/a
49	EP300	chr11:57103214-57103940	K562	blood:	n/a	n/a
50	CTCF	chr11:57103678-57103756	GM19239	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57101540..57104523-chr11:57435455..57437198,2	K562	blood:
2	chr11:57101959..57104495-chr11:57114498..57116967,2	K562	blood:
3	chr11:57102611..57104475-chr11:57280670..57283217,2	K562	blood:
4	chr11:57101355..57105024-chr11:57147650..57149782,3	K562	blood:
5	chr11:57103113..57103776-chr5:86563201..86564115,2	HCT-116	colon:

Variant related genes	Relation type
SSRP1	TF binding region
P2RX3	TF binding region
ENSG00000156599	Chromatin interaction
ENSG00000109991	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156575	Chromatin interaction
ENSG00000145715	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10792086	0.92[ASN][1000 genomes]
rs10792088	0.92[ASN][1000 genomes]
rs10792089	0.92[ASN][1000 genomes]
rs10792091	1.00[ASN][1000 genomes]
rs10896598	1.00[ASN][1000 genomes]
rs10896603	0.92[ASN][1000 genomes]
rs10896604	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228995	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228997	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.92[ASN][1000 genomes]
rs11602266	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603691	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361969	0.82[ASN][1000 genomes]
rs12365472	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576878	0.92[ASN][1000 genomes]
rs1815769	1.00[ASN][1000 genomes]
rs2230649	0.92[ASN][1000 genomes]
rs34135716	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4938863	0.92[ASN][1000 genomes]
rs4938864	1.00[ASN][1000 genomes]
rs61888886	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7111339	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129491	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951793	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:57102000-57103800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:57102400-57103800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57102400-57103800	Active TSS	Esophagus	oesophagus
4	chr11:57102400-57103800	Active TSS	Gastric	stomach
5	chr11:57102400-57103800	Active TSS	NHDF-Ad	bronchial
6	chr11:57102600-57103800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:57102600-57103800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:57102600-57103800	Active TSS	Aorta	Aorta
9	chr11:57102600-57103800	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:57102600-57103800	Active TSS	Fetal Intestine Large	intestine
11	chr11:57102600-57103800	Active TSS	Ovary	ovary
12	chr11:57102600-57103800	Active TSS	Small Intestine	intestine
13	chr11:57102600-57104000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:57102600-57104000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:57102600-57104000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:57102600-57104000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:57102800-57103800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:57102800-57103800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:57102800-57103800	Active TSS	Brain Hippocampus Middle	brain
20	chr11:57102800-57103800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:57102800-57103800	Active TSS	Colon Smooth Muscle	Colon
22	chr11:57102800-57103800	Active TSS	Fetal Brain Female	brain
23	chr11:57102800-57103800	Active TSS	Right Atrium	heart
24	chr11:57102800-57103800	Active TSS	Right Ventricle	heart
25	chr11:57102800-57103800	Active TSS	Stomach Mucosa	stomach
26	chr11:57103000-57104000	Active TSS	Colonic Mucosa	Colon
27	chr11:57103200-57103800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:57103400-57103800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:57103400-57104000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:57103400-57104000	Flanking Active TSS	Fetal Lung	lung
31	chr11:57103400-57104000	Flanking Active TSS	HMEC	breast
32	chr11:57103400-57104000	Flanking Active TSS	HUVEC	blood vessel
33	chr11:57103400-57104200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:57103400-57104200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:57103400-57104200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:57103400-57104200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr11:57103400-57104200	Flanking Active TSS	Hela-S3	cervix
38	chr11:57103600-57103800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr11:57103600-57103800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:57103600-57103800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:57103600-57103800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:57103600-57103800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:57103600-57103800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:57103600-57103800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:57103600-57103800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:57103600-57103800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:57103600-57103800	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr11:57103600-57103800	Flanking Active TSS	Lung	lung
49	chr11:57103600-57103800	Flanking Active TSS	Pancreas	Pancrea
50	chr11:57103600-57103800	Flanking Active TSS	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links