Variant report

Variant	rs10941607
Chromosome Location	chr5:43058356-43058357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:43058197-43058614	T-47D	breast:	n/a	n/a
2	FOXA1	chr5:43058232-43058715	HepG2	liver:	n/a	n/a
3	EP300	chr5:43058118-43058743	A549	lung:	n/a	n/a
4	EP300	chr5:43058243-43058613	T-47D	breast:	n/a	n/a
5	SP1	chr5:43058128-43058801	A549	lung:	n/a	n/a
6	FOXA2	chr5:43058184-43058759	A549	lung:	n/a	n/a
7	NR3C1	chr5:43058238-43058777	A549	lung:	n/a	n/a
8	NR3C1	chr5:43058213-43059005	A549	lung:	n/a	n/a
9	HEY1	chr5:43058257-43058678	HepG2	liver:	n/a	n/a
10	NR3C1	chr5:43058184-43059090	A549	lung:	n/a	n/a
11	POLR2A	chr5:43058196-43058442	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:43058332-43058703	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:43058191-43058604	PANC-1	pancreas:	n/a	n/a
14	NFIC	chr5:43058327-43058626	HepG2	liver:	n/a	n/a
15	ESR1	chr5:43058260-43058651	T-47D	breast:	n/a	n/a
16	MAFF	chr5:43058334-43058537	HepG2	liver:	n/a	chr5:43058388-43058406
17	EP300	chr5:43058077-43058863	A549	lung:	n/a	n/a
18	EP300	chr5:43058256-43058603	HepG2	liver:	n/a	n/a
19	EP300	chr5:43058221-43058678	HepG2	liver:	n/a	n/a
20	MAZ	chr5:43058347-43058517	HepG2	liver:	n/a	n/a
21	FOXA1	chr5:43058222-43058575	T-47D	breast:	n/a	n/a
22	CREB1	chr5:43058330-43058575	A549	lung:	n/a	n/a
23	MAX	chr5:43058213-43058628	A549	lung:	n/a	n/a
24	FOXA1	chr5:43058190-43058680	HepG2	liver:	n/a	n/a
25	MBD4	chr5:43058223-43058659	HepG2	liver:	n/a	n/a
26	FOXA1	chr5:43058145-43058639	HepG2	liver:	n/a	n/a
27	FOXA2	chr5:43058228-43058603	HepG2	liver:	n/a	n/a
28	NR3C1	chr5:43058162-43058983	A549	lung:	n/a	n/a
29	MAX	chr5:43058157-43058642	A549	lung:	n/a	n/a
30	HDAC2	chr5:43058152-43058627	HepG2	liver:	n/a	n/a
31	SP1	chr5:43058143-43058652	HepG2	liver:	n/a	n/a
32	MAX	chr5:43058295-43058633	HepG2	liver:	n/a	n/a
33	FOXA2	chr5:43058133-43058737	A549	lung:	n/a	n/a
34	GATA3	chr5:43058262-43058544	T-47D	breast:	n/a	n/a
35	ARID3A	chr5:43058244-43058561	HepG2	liver:	n/a	n/a
36	NR3C1	chr5:43058106-43059035	A549	lung:	n/a	n/a
37	TEAD4	chr5:43058104-43058659	HepG2	liver:	n/a	n/a
38	HDAC2	chr5:43058260-43058693	HepG2	liver:	n/a	n/a
39	SP1	chr5:43058102-43058813	A549	lung:	n/a	n/a
40	NR3C1	chr5:43058314-43058626	A549	lung:	n/a	n/a
41	TCF12	chr5:43058099-43058812	A549	lung:	n/a	n/a
42	FOXA1	chr5:43058106-43058679	HepG2	liver:	n/a	n/a
43	NFIC	chr5:43058165-43058602	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43041821..43045010-chr5:43056741..43058812,4	MCF-7	breast:
2	chr5:43056723..43061156-chr5:43062067..43067784,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272144	TF binding region
ENSG00000215068	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000177721	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10058374	0.88[JPT][hapmap]
rs10074873	0.87[JPT][hapmap]
rs10075647	0.81[JPT][hapmap]
rs1032434	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10454865	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805667	0.88[JPT][hapmap]
rs10941608	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11550285	0.86[ASN][1000 genomes]
rs11550286	0.87[ASN][1000 genomes]
rs11550287	0.81[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs11740797	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11742691	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747015	0.80[AMR][1000 genomes]
rs11748187	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11949817	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11956243	0.87[ASN][1000 genomes]
rs12188691	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs13155513	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13159703	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13169563	0.92[ASN][1000 genomes]
rs13173064	0.92[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13665	0.87[JPT][hapmap]
rs1532331	0.87[JPT][hapmap]
rs17301375	0.96[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2452831	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316398	0.81[JPT][hapmap]
rs316405	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316410	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316411	0.81[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs316418	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3207358	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34087147	0.83[AMR][1000 genomes]
rs34315422	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34492794	0.81[AMR][1000 genomes]
rs34670023	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34808919	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34859360	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35085573	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35541316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35953019	0.87[JPT][hapmap]
rs36039989	0.87[ASN][1000 genomes]
rs36083302	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3733839	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3849698	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs3849699	0.85[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs4498259	0.87[JPT][hapmap]
rs493097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs504404	0.83[ASN][1000 genomes]
rs541143	0.87[JPT][hapmap]
rs55939188	0.83[AMR][1000 genomes]
rs581914	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62367685	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62367688	0.91[ASN][1000 genomes]
rs62372869	0.83[AMR][1000 genomes]
rs6414900	0.87[JPT][hapmap]
rs6451674	0.87[JPT][hapmap]
rs6451675	0.87[JPT][hapmap]
rs670206	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6862639	0.87[JPT][hapmap]
rs6864223	0.87[ASN][1000 genomes]
rs6871636	0.87[JPT][hapmap]
rs6884303	0.88[JPT][hapmap]
rs6894506	0.87[JPT][hapmap]
rs7709181	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7729529	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7730004	0.87[JPT][hapmap]
rs9790935	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
9	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10941607	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
3	chr5:43043600-43064000	Weak transcription	NHEK	skin
4	chr5:43043800-43061200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:43043800-43064000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:43044800-43059400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:43044800-43064000	Weak transcription	Right Ventricle	heart
8	chr5:43044800-43064200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:43044800-43064400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:43045000-43061400	Weak transcription	NHLF	lung
11	chr5:43045000-43063800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:43045000-43064200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:43045000-43064400	Weak transcription	Esophagus	oesophagus
14	chr5:43045400-43058600	Weak transcription	Pancreas	Pancrea
15	chr5:43045400-43061400	Weak transcription	Hela-S3	cervix
16	chr5:43045400-43064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
18	chr5:43045600-43058800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:43045600-43061000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:43045600-43063600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:43046600-43063800	Weak transcription	Left Ventricle	heart
22	chr5:43048200-43064200	Weak transcription	Psoas Muscle	Psoas
23	chr5:43049200-43064000	Weak transcription	Fetal Stomach	stomach
24	chr5:43049400-43061200	Weak transcription	HSMM	muscle
25	chr5:43049400-43061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:43049800-43064400	Weak transcription	Fetal Lung	lung
27	chr5:43050000-43061400	Weak transcription	NH-A	brain
28	chr5:43050600-43061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:43050800-43060800	Weak transcription	NHDF-Ad	bronchial
30	chr5:43050800-43064000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:43051400-43064400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:43051600-43064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:43052600-43063800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:43053400-43064000	Weak transcription	Primary T cells from cord blood	blood
35	chr5:43053600-43064000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:43053600-43064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:43053800-43058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:43053800-43058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:43053800-43060800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:43053800-43063600	Weak transcription	Dnd41	blood
41	chr5:43053800-43063800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:43053800-43063800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:43053800-43063800	Weak transcription	Placenta	Placenta
44	chr5:43053800-43063800	Weak transcription	Fetal Thymus	thymus
45	chr5:43053800-43063800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:43053800-43064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:43054000-43058400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:43054000-43058400	Weak transcription	Thymus	Thymus
49	chr5:43054000-43063800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:43054400-43063800	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links