Variant report

Variant	rs11656837
Chromosome Location	chr17:20899479-20899480
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	chr17:20899351-20909849	K562	blood:	n/a	n/a
2	POLR2A	chr17:20899206-20903031	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr17:20899174-20899838	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:20899000-20899528	H1-neurons	neurons:	n/a	n/a
5	ZNF263	chr17:20899210-20900303	HEK293-T-REx	kidney:	n/a	n/a
6	POLR2A	chr17:20899218-20899677	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr17:20899278-20902883	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:20899411-20899559	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:20899384-20903040	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:20897542-20903962	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr17:20899350-20902769	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:20893363..20896072-chr17:20898999..20901703,2	MCF-7	breast:
2	chr17:20895463..20898047-chr17:20898321..20900254,2	K562	blood:
3	chr17:20895064..20900549-chr17:20901410..20906180,6	K562	blood:

Variant related genes	Relation type
ENSG00000263986	TF binding region
ENSG00000263986	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11204326	0.81[EUR][1000 genomes]
rs11204329	0.87[ASN][1000 genomes]
rs11541311	0.87[ASN][1000 genomes]
rs11653213	0.81[ASN][1000 genomes]
rs11656525	0.83[ASN][1000 genomes]
rs11658389	0.83[ASN][1000 genomes]
rs11658671	0.86[ASN][1000 genomes]
rs11658791	0.83[ASN][1000 genomes]
rs16962375	0.87[ASN][1000 genomes]
rs2009757	0.87[ASN][1000 genomes]
rs2291035	0.85[ASN][1000 genomes]
rs3891644	0.89[ASN][1000 genomes]
rs4545877	0.82[EUR][1000 genomes]
rs4985936	0.81[EUR][1000 genomes]
rs4985940	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985943	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985944	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62056764	0.87[ASN][1000 genomes]
rs62056765	0.83[ASN][1000 genomes]
rs62056768	0.83[ASN][1000 genomes]
rs62056770	0.91[ASN][1000 genomes]
rs62056771	0.91[ASN][1000 genomes]
rs62056832	0.87[ASN][1000 genomes]
rs716959	0.85[ASN][1000 genomes]
rs7215006	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7216145	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7218520	0.92[ASN][1000 genomes]
rs7221189	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7224752	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7501525	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8079468	0.87[ASN][1000 genomes]
rs9325900	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9896109	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9972887	0.83[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	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11656837	RP11-344E13.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20893000-20901600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:20893800-20901200	Weak transcription	Right Atrium	heart
3	chr17:20896400-20900400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:20896400-20901400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr17:20896400-20901600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:20896400-20902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:20896600-20901800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:20896600-20901800	Weak transcription	HUVEC	blood vessel
9	chr17:20896600-20902000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:20896800-20899600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:20896800-20900000	Weak transcription	Adipose Nuclei	Adipose
13	chr17:20896800-20900000	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:20896800-20900600	Weak transcription	Esophagus	oesophagus
15	chr17:20896800-20900600	Weak transcription	Fetal Intestine Small	intestine
16	chr17:20896800-20900600	Weak transcription	Left Ventricle	heart
17	chr17:20896800-20900800	Weak transcription	Brain Germinal Matrix	brain
18	chr17:20896800-20900800	Weak transcription	Fetal Brain Female	brain
19	chr17:20896800-20901000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:20896800-20901000	Weak transcription	Ovary	ovary
21	chr17:20896800-20901400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:20896800-20901400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr17:20896800-20901400	Weak transcription	Fetal Lung	lung
24	chr17:20896800-20901600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:20896800-20901600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:20896800-20901600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:20896800-20901600	Weak transcription	HSMM	muscle
28	chr17:20896800-20901800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:20896800-20901800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:20896800-20901800	Weak transcription	NHDF-Ad	bronchial
31	chr17:20896800-20902200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr17:20896800-20902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:20896800-20902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:20896800-20902200	Weak transcription	Fetal Thymus	thymus
35	chr17:20896800-20902400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr17:20896800-20902600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr17:20896800-20902600	Weak transcription	Colonic Mucosa	Colon
38	chr17:20896800-20902600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:20896800-20902600	Weak transcription	NHEK	skin
40	chr17:20896800-20904200	Weak transcription	Primary T cells from cord blood	blood
41	chr17:20896800-20904800	Weak transcription	Fetal Kidney	kidney
42	chr17:20896800-20905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:20897000-20899600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr17:20897000-20900400	Weak transcription	Brain Angular Gyrus	brain
45	chr17:20897000-20900600	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:20897000-20901000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:20897000-20901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:20897000-20901600	Weak transcription	HSMMtube	muscle
49	chr17:20897000-20901800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:20897000-20901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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