Variant report

Variant	rs4614476
Chromosome Location	chr11:71318648-71318649
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	POLR2A	chr11:71317895-71320062	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KRTAP5-11	TF binding region
ENSG00000187811	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060714	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792811	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898387	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898390	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898391	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898394	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234332	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234333	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11234353	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234358	0.85[EUR][1000 genomes]
rs11518713	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12363122	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12364663	0.85[ASN][1000 genomes]
rs3888289	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4245445	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4623928	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945066	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119304	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7130930	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7937575	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7938461	0.85[EUR][1000 genomes]
rs7939179	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7948904	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9665982	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9666886	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9667092	0.83[EUR][1000 genomes]
rs9736578	0.81[EUR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1043207	chr11:71293875-71442666	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1036258	chr11:71299175-71523551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1041027	chr11:71299175-71527896	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv555403	chr11:71301189-71430470	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3369271	chr11:71307946-71334603	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv972040	chr11:71315526-71330518	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv897901	chr11:71316093-71441301	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv897902	chr11:71316093-71468856	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv897903	chr11:71316093-71523766	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71317800-71319000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:71317800-71319000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:71317800-71319600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:71318000-71318800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:71318000-71318800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr11:71318000-71319000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:71318000-71319000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:71318000-71319000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:71318000-71319000	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr11:71318000-71319000	Bivalent Enhancer	HMEC	breast
11	chr11:71318000-71319600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr11:71318000-71319600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:71318200-71318800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71318200-71318800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:71318200-71318800	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr11:71318200-71318800	Enhancers	Esophagus	oesophagus
17	chr11:71318200-71318800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr11:71318200-71318800	Bivalent Enhancer	Lung	lung
19	chr11:71318200-71319000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:71318200-71319000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:71318200-71319000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:71318200-71319000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:71318200-71319000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
24	chr11:71318200-71319000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:71318200-71319200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:71318200-71319600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:71318200-71319800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:71318400-71318800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:71318400-71318800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:71318400-71318800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr11:71318400-71318800	Enhancers	Gastric	stomach
32	chr11:71318400-71318800	Enhancers	Pancreas	Pancrea
33	chr11:71318400-71318800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
34	chr11:71318400-71319000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:71318400-71319000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:71318400-71319000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:71318400-71319000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr11:71318400-71319000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr11:71318400-71319000	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr11:71318400-71319000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
41	chr11:71318400-71319000	Bivalent Enhancer	Spleen	Spleen
42	chr11:71318400-71319000	Bivalent Enhancer	NHEK	skin
43	chr11:71318400-71319200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr11:71318600-71318800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr11:71318600-71318800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:71318600-71318800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr11:71318600-71318800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:71318600-71318800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:71318600-71318800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:71318600-71318800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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