Variant report

Variant	rs17157377
Chromosome Location	chr11:62303631-62303632
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	POLR2A	chr11:62303606-62303896	A549	lung:	n/a	n/a
2	POLR2A	chr11:62303373-62303631	K562	blood:	n/a	n/a
3	POLR2A	chr11:62303533-62303999	U87	brain:	n/a	n/a
4	POLR2A	chr11:62302992-62304439	U87	brain:	n/a	n/a
5	POLR2A	chr11:62303571-62303720	ProgFib	skin:	n/a	n/a
6	POLR2A	chr11:62279462-62304472	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:62303300-62303761	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:62303386-62303668	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:62303106-62304322	A549	lung:	n/a	n/a
10	POLR2A	chr11:62302986-62304537	U87	brain:	n/a	n/a
11	POLR2A	chr11:62303262-62304117	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:62303245-62304439	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000250659	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11824660	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826380	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826949	0.83[ASW][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41346047	1.00[MEX][hapmap]
rs41427449	1.00[MEX][hapmap]

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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised 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 miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription 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	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
5	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
12	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:62282000-62304800	Strong transcription	HSMM	muscle
16	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:62283000-62304400	Strong transcription	HMEC	breast
20	chr11:62283200-62305000	Strong transcription	NHEK	skin
21	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:62284200-62305800	Strong transcription	Aorta	Aorta
23	chr11:62285800-62305600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:62286000-62304200	Strong transcription	Liver	Liver
25	chr11:62286200-62304400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:62287800-62303800	Strong transcription	Fetal Lung	lung
27	chr11:62289000-62305600	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:62295000-62306200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:62295800-62306400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:62296000-62304000	Strong transcription	Primary B cells from cord blood	blood
31	chr11:62296200-62303800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:62296600-62304400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:62297800-62304200	Strong transcription	Colonic Mucosa	Colon
34	chr11:62298600-62303800	Strong transcription	Primary T cells from cord blood	blood
35	chr11:62298600-62304200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:62298600-62305400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:62299000-62304600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:62299000-62304800	Weak transcription	Fetal Thymus	thymus
39	chr11:62299200-62304400	Strong transcription	Ovary	ovary
40	chr11:62299400-62304000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:62299400-62307600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:62299600-62304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:62299600-62305400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:62300000-62306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:62300400-62305000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:62300400-62305800	Weak transcription	Thymus	Thymus
47	chr11:62300600-62305600	Weak transcription	Fetal Heart	heart
48	chr11:62300600-62307000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:62300800-62303800	Strong transcription	Pancreas	Pancrea
50	chr11:62301000-62306000	Weak transcription	K562	blood

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