Variant report

Variant	rs9911822
Chromosome Location	chr17:15412670-15412671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15405961..15408797-chr17:15411656..15413886,2	K562	blood:
2	chr17:15411701..15413782-chr17:15416873..15418569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239704	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11649792	0.82[EUR][1000 genomes]
rs11651787	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11653403	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1465251	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1465252	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2052022	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28411195	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28733269	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3865257	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4365325	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4572441	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55749051	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56407841	0.80[EUR][1000 genomes]
rs62069953	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62072569	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62072571	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62072578	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072579	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs716389	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7211982	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7215138	0.80[ASN][1000 genomes]
rs8076852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899922	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9901383	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9903674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9906036	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9908651	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9911005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913509	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active 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 target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
2	chr17:15383400-15455000	Weak transcription	Gastric	stomach
3	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
4	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
5	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
9	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
10	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:15400800-15413000	Weak transcription	NH-A	brain
12	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
13	chr17:15405400-15418200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr17:15405400-15419000	Weak transcription	Liver	Liver
15	chr17:15406000-15416800	Weak transcription	K562	blood
16	chr17:15406200-15414600	Weak transcription	Brain Angular Gyrus	brain
17	chr17:15406200-15414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:15406200-15416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:15406200-15420600	Weak transcription	Colonic Mucosa	Colon
20	chr17:15406600-15412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:15406600-15412800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:15406600-15413200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:15406600-15413400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:15406600-15413400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:15406600-15413400	Weak transcription	Brain Substantia Nigra	brain
26	chr17:15406600-15413400	Weak transcription	Osteobl	bone
27	chr17:15406600-15414400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr17:15406600-15414600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:15406600-15415000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:15406600-15416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:15406600-15417000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:15406600-15417000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:15406600-15417000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:15406600-15417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:15406600-15419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:15406600-15419800	Weak transcription	NHEK	skin
37	chr17:15406600-15422800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr17:15406600-15428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:15406800-15412800	Weak transcription	Brain Anterior Caudate	brain
40	chr17:15406800-15413200	Weak transcription	Adipose Nuclei	Adipose
41	chr17:15406800-15413200	Weak transcription	A549	lung
42	chr17:15406800-15414400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:15406800-15414600	Weak transcription	Brain Hippocampus Middle	brain
44	chr17:15406800-15415400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr17:15406800-15415600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr17:15406800-15416400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:15406800-15417000	Weak transcription	Esophagus	oesophagus
48	chr17:15406800-15418200	Weak transcription	Placenta	Placenta
49	chr17:15406800-15418600	Weak transcription	Spleen	Spleen
50	chr17:15406800-15419000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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