Variant report

Variant	rs8438
Chromosome Location	chr17:46147945-46147946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46126491..46128945-chr17:46147330..46148868,2	K562	blood:
2	chr17:46146087..46149724-chr17:46183663..46186307,3	K562	blood:
3	chr17:46147297..46149380-chr17:46149776..46151731,2	K562	blood:

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11079811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11079812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11868509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12449324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12602010	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12947056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12948653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs12953085	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1316643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17619103	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2107308	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525103	0.84[CEU][hapmap]
rs62064917	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62064918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7209484	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7215582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8065464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8081209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv962336	chr17:46147600-46149715	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
2	chr17:46130600-46149800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:46131400-46151000	Strong transcription	Thymus	Thymus
5	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:46132600-46148000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
9	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
10	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:46133200-46149400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
13	chr17:46133400-46149800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:46133400-46150600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:46133400-46151000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:46133400-46154400	Strong transcription	Brain Germinal Matrix	brain
17	chr17:46133400-46154400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr17:46133400-46154600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:46133400-46155200	Strong transcription	Dnd41	blood
20	chr17:46133600-46149400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr17:46133600-46151400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:46133600-46154400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr17:46133600-46154400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:46133600-46154600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:46134000-46154200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr17:46134400-46154400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:46135400-46155400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr17:46137400-46155200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr17:46137800-46151600	Weak transcription	Stomach Mucosa	stomach
30	chr17:46137800-46154600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr17:46138000-46154400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
33	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
35	chr17:46140000-46153800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:46140200-46156400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
39	chr17:46141800-46148600	Weak transcription	Pancreas	Pancrea
40	chr17:46142200-46149200	Strong transcription	Left Ventricle	heart
41	chr17:46142200-46154400	Strong transcription	Fetal Muscle Leg	muscle
42	chr17:46142400-46148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:46142400-46153600	Weak transcription	Gastric	stomach
44	chr17:46142600-46148200	Enhancers	Adipose Nuclei	Adipose
45	chr17:46142600-46153400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
47	chr17:46142800-46148200	Weak transcription	Lung	lung
48	chr17:46143600-46151400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:46143600-46157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:46143800-46153400	Weak transcription	Spleen	Spleen

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