Variant report

Variant	rs7226319
Chromosome Location	chr17:15402165-15402166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15158560..15160723-chr17:15400595..15402410,2	K562	blood:
2	chr17:15392637..15397367-chr17:15398758..15404412,8	K562	blood:
3	chr17:15392701..15397152-chr17:15398701..15402500,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12325699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12325794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12325796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207233	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7207567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7208444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7211746	1.00[AMR][1000 genomes]
rs7212864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213647	1.00[AMR][1000 genomes]
rs7215176	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7219578	1.00[AMR][1000 genomes]
rs7226038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064272	1.00[AMR][1000 genomes]
rs8064369	1.00[AMR][1000 genomes]
rs8064896	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071393	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8072242	1.00[AMR][1000 genomes]
rs8074918	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8081114	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9674575	1.00[AMR][1000 genomes]
rs9674638	1.00[AMR][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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
2	chr17:15368400-15405400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:15369200-15405000	Weak transcription	Esophagus	oesophagus
4	chr17:15377400-15406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
6	chr17:15383400-15402200	Weak transcription	A549	lung
7	chr17:15383400-15455000	Weak transcription	Gastric	stomach
8	chr17:15383800-15405200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:15383800-15406000	Weak transcription	NHEK	skin
10	chr17:15384600-15406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
12	chr17:15387200-15403800	Weak transcription	Liver	Liver
13	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
14	chr17:15387400-15405000	Weak transcription	Lung	lung
15	chr17:15388600-15406000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:15393000-15406000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr17:15393800-15405400	Weak transcription	Colonic Mucosa	Colon
19	chr17:15394400-15405800	Weak transcription	Aorta	Aorta
20	chr17:15394400-15406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:15394600-15405000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:15394600-15405000	Weak transcription	Fetal Lung	lung
23	chr17:15394600-15405000	Weak transcription	Spleen	Spleen
24	chr17:15394600-15405200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:15394600-15405200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:15394600-15405600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:15394600-15406400	Weak transcription	Stomach Mucosa	stomach
28	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:15394800-15404800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:15394800-15405000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr17:15395000-15404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:15395000-15405400	Weak transcription	NHLF	lung
34	chr17:15395000-15405600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr17:15395000-15410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr17:15395200-15403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:15395400-15403800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:15395400-15405200	Weak transcription	Brain Angular Gyrus	brain
39	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
40	chr17:15395800-15402600	Weak transcription	HUVEC	blood vessel
41	chr17:15395800-15405800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
43	chr17:15396400-15405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:15396600-15405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:15396800-15405000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:15396800-15405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr17:15396800-15405000	Weak transcription	Fetal Muscle Leg	muscle
48	chr17:15396800-15405200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr17:15397000-15405000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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