Variant report

Variant	rs8191431
Chromosome Location	chr11:67350054-67350055
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	MAX	chr11:67350042-67350507	H1-hESC	embryonic stem cell:	n/a	chr11:67350276-67350286
2	FOXA1	chr11:67349481-67350377	T-47D	breast:	n/a	chr11:67350044-67350059
3	REST	chr11:67349925-67350395	PFSK-1	brain:	n/a	n/a
4	HDAC2	chr11:67349837-67350437	MCF-7	breast:	n/a	n/a
5	MYC	chr11:67350037-67350489	K562	blood:	n/a	chr11:67350276-67350286
6	MAX	chr11:67349953-67350661	K562	blood:	n/a	chr11:67350276-67350286
7	GATA3	chr11:67349857-67350255	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr11:67349962-67350639	GM12892	blood:	n/a	n/a
9	YY1	chr11:67349959-67350476	SK-N-SH_RA	brain:	n/a	n/a
10	GABPA	chr11:67349858-67350455	MCF-7	breast:	n/a	n/a
11	NR2F2	chr11:67349783-67350447	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr11:67349898-67350273	MCF-7	breast:	n/a	n/a
13	MAX	chr11:67350047-67350349	Hela-S3	cervix:	n/a	chr11:67350276-67350286
14	MAX	chr11:67349877-67350582	HCT-116	colon:	n/a	chr11:67350276-67350286
15	MAX	chr11:67350017-67350418	Hela-S3	cervix:	n/a	chr11:67350276-67350286
16	EP300	chr11:67349618-67350529	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr11:67349839-67350436	SK-N-SH	brain:	n/a	n/a
18	ELF1	chr11:67349849-67350508	MCF-7	breast:	n/a	n/a
19	GATA3	chr11:67349550-67350359	T-47D	breast:	n/a	n/a
20	TBL1XR1	chr11:67350027-67350435	K562	blood:	n/a	n/a
21	USF1	chr11:67349969-67350385	K562	blood:	n/a	chr11:67350284-67350295
22	TCF12	chr11:67349781-67350449	MCF-7	breast:	n/a	n/a
23	TCF12	chr11:67349558-67350465	MCF-7	breast:	n/a	n/a
24	FOXA1	chr11:67349522-67350416	T-47D	breast:	n/a	chr11:67350044-67350059
25	POLR2A	chr11:67349986-67350406	PANC-1	pancreas:	n/a	n/a
26	SRF	chr11:67349852-67350527	MCF-7	breast:	n/a	n/a
27	GATA3	chr11:67348740-67350617	MCF-7	breast:	n/a	n/a
28	REST	chr11:67350034-67350356	SK-N-SH	brain:	n/a	n/a
29	MAX	chr11:67349876-67350528	MCF-7	breast:	n/a	chr11:67350276-67350286
30	MYC	chr11:67350053-67350399	MCF10A-Er-Src	breast:	n/a	chr11:67350276-67350286
31	MAX	chr11:67350039-67350473	K562	blood:	n/a	chr11:67350276-67350286
32	MAX	chr11:67350002-67350497	SK-N-SH	brain:	n/a	chr11:67350276-67350286
33	RCOR1	chr11:67350016-67350525	K562	blood:	n/a	n/a
34	SIN3AK20	chr11:67349686-67350597	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:67349917-67350489	PFSK-1	brain:	n/a	n/a
36	CUX1	chr11:67349915-67350275	GM12878	blood:	n/a	n/a
37	USF1	chr11:67350034-67350400	HCT-116	colon:	n/a	chr11:67350284-67350295
38	TEAD4	chr11:67349889-67350374	MCF-7	breast:	n/a	n/a
39	SIN3AK20	chr11:67349975-67350330	PFSK-1	brain:	n/a	n/a
40	CHD2	chr11:67350044-67350382	K562	blood:	n/a	n/a
41	MYC	chr11:67350027-67350531	K562	blood:	n/a	chr11:67350276-67350286
42	E2F6	chr11:67350015-67350564	H1-hESC	embryonic stem cell:	n/a	n/a
43	GATA3	chr11:67349775-67350389	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr11:67349695-67350581	MCF-7	breast:	n/a	n/a
45	EP300	chr11:67349908-67350292	SK-N-SH_RA	brain:	n/a	n/a
46	MYC	chr11:67349997-67352101	K562	blood:	n/a	chr11:67350276-67350286
47	MAX	chr11:67350025-67350525	A549	lung:	n/a	chr11:67350276-67350286
48	USF1	chr11:67350026-67350440	H1-hESC	embryonic stem cell:	n/a	chr11:67350284-67350295
49	SIN3AK20	chr11:67349610-67350574	MCF-7	breast:	n/a	n/a
50	JUND	chr11:67350044-67350385	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67349088..67352896-chr11:67377453..67387652,15	K562	blood:
2	chr11:67275111..67277928-chr11:67348479..67351408,2	MCF-7	breast:
3	chr11:67348020..67353194-chr11:67379787..67385803,14	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67348370..67350367-chr11:67374395..67376609,2	MCF-7	breast:
6	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
7	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
8	chr11:67349032..67351635-chr11:67571367..67573562,2	K562	blood:
9	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
10	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
11	chr11:67274528..67277767-chr11:67349958..67353064,4	K562	blood:

Variant related genes	Relation type
GSTP1	TF binding region
ENSG00000255119	Chromatin interaction
ENSG00000160172	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000184224	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10082595	0.91[ASW][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs10896187	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs11227829	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227843	0.89[AFR][1000 genomes]
rs11227847	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs11227853	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs11227856	0.92[ASW][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs11227858	0.93[AFR][1000 genomes]
rs11227859	0.84[ASW][hapmap];0.88[LWK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs11227863	0.88[AFR][1000 genomes]
rs11227864	0.91[AFR][1000 genomes]
rs11227867	0.90[AFR][1000 genomes]
rs11227870	0.92[ASW][hapmap];0.84[LWK][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs11227872	0.90[AFR][1000 genomes]
rs11501414	0.90[AFR][1000 genomes]
rs12270939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274182	1.00[AMR][1000 genomes]
rs12275583	0.94[AFR][1000 genomes]
rs12277603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279654	0.94[AFR][1000 genomes]
rs12280141	1.00[AMR][1000 genomes]
rs12281959	0.85[AFR][1000 genomes]
rs12283777	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs12284337	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs12285190	0.90[AFR][1000 genomes]
rs12285294	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285568	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs12286629	0.96[AFR][1000 genomes]
rs12287042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288767	0.93[AFR][1000 genomes]
rs12288862	0.93[AFR][1000 genomes]
rs12288915	0.86[AFR][1000 genomes]
rs12291838	1.00[AMR][1000 genomes]
rs12291861	0.90[AFR][1000 genomes]
rs12292686	1.00[AMR][1000 genomes]
rs12293712	0.81[AFR][1000 genomes]
rs12293788	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12295232	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs12295962	1.00[AMR][1000 genomes]
rs28856416	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs28894705	0.93[AFR][1000 genomes]
rs4930445	0.81[AFR][1000 genomes]
rs6591248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102855	0.83[AFR][1000 genomes]
rs7112719	0.90[AFR][1000 genomes]
rs7129806	0.90[AFR][1000 genomes]
rs8191448	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651716	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191431	NUDT8	cis	lymphoblastoid	seeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67344400-67350600	Enhancers	Stomach Mucosa	stomach
2	chr11:67345600-67350200	Enhancers	Fetal Intestine Small	intestine
3	chr11:67346800-67350600	Enhancers	Pancreas	Pancrea
4	chr11:67346800-67351000	Enhancers	Liver	Liver
5	chr11:67347200-67350200	Weak transcription	Right Ventricle	heart
6	chr11:67347400-67350200	Weak transcription	Colonic Mucosa	Colon
7	chr11:67347400-67350400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:67347400-67351200	Weak transcription	Spleen	Spleen
9	chr11:67347600-67350200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:67347600-67350200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:67347600-67350400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:67347600-67350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:67347600-67350400	Enhancers	HepG2	liver
14	chr11:67347600-67350400	Weak transcription	HSMM	muscle
15	chr11:67347800-67350800	Weak transcription	Gastric	stomach
16	chr11:67348400-67350400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:67348400-67350800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:67348400-67350800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:67348600-67350200	Enhancers	NHEK	skin
20	chr11:67348600-67350400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:67348600-67350400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:67348600-67350600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:67348800-67350200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:67348800-67350400	Enhancers	Fetal Intestine Large	intestine
25	chr11:67348800-67350600	Enhancers	Placenta	Placenta
26	chr11:67349000-67350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:67349000-67350400	Enhancers	Hela-S3	cervix
28	chr11:67349000-67350800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:67349000-67350800	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:67349200-67350200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:67349200-67350800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:67349400-67350200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:67349400-67350200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:67349400-67350200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:67349400-67350800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:67349600-67350200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:67349600-67350200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:67349600-67350400	Enhancers	Primary T cells from cord blood	blood
39	chr11:67349600-67350400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:67349600-67350400	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:67349600-67350400	Flanking Active TSS	K562	blood
42	chr11:67349600-67350800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:67349600-67350800	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:67349600-67350800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:67349800-67350200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr11:67349800-67350200	Enhancers	Brain Hippocampus Middle	brain
47	chr11:67349800-67350200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:67349800-67350200	Weak transcription	Right Atrium	heart
49	chr11:67349800-67350200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:67349800-67350400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links