Variant report

Variant	rs17619366
Chromosome Location	chr6:119628788-119628789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119617703..119620328-chr6:119627300..119629945,2	K562	blood:
2	chr6:119609733..119612979-chr6:119627928..119630973,3	K562	blood:
3	chr6:119628759..119633610-chr6:119634034..119636665,6	MCF-7	breast:
4	chr6:119590465..119593242-chr6:119626545..119629330,2	K562	blood:

Variant related genes	Relation type
ENSG00000216316	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17442217	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17442238	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442343	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17514202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17526989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17527003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17527153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17536339	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2038768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3798611	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56320899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56926474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6569064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6926266	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6933973	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6941142	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73769010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73769011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7740521	1.00[EUR][1000 genomes]
rs7740969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7743309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748940	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7763451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7763610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481896	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489641	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489642	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489647	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489652	0.88[EUR][1000 genomes]
rs9489655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489659	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv1794477	chr6:119609322-119633534	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:119599800-119632600	Weak transcription	Spleen	Spleen
3	chr6:119600000-119629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:119602400-119629200	Weak transcription	NH-A	brain
5	chr6:119602600-119629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
7	chr6:119614200-119629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:119615400-119632600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:119616400-119630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:119617200-119637400	Weak transcription	Aorta	Aorta
11	chr6:119617600-119629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:119617600-119632200	Weak transcription	Right Ventricle	heart
13	chr6:119618000-119629000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:119618000-119629200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:119618000-119630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:119618200-119633800	Weak transcription	Colonic Mucosa	Colon
17	chr6:119618600-119629200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:119618600-119630200	Weak transcription	Small Intestine	intestine
19	chr6:119619400-119632800	Weak transcription	Ovary	ovary
20	chr6:119621600-119633600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:119621600-119634000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:119621800-119629600	Weak transcription	Fetal Intestine Small	intestine
23	chr6:119623000-119630200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:119623000-119632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:119623400-119633600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:119624400-119629000	Weak transcription	HUVEC	blood vessel
27	chr6:119625200-119629000	Weak transcription	NHEK	skin
28	chr6:119625200-119629200	Weak transcription	NHLF	lung
29	chr6:119625200-119631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:119625200-119631600	Genic enhancers	K562	blood
31	chr6:119625200-119632800	Weak transcription	Right Atrium	heart
32	chr6:119625200-119634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:119625200-119634200	Weak transcription	Brain Angular Gyrus	brain
34	chr6:119625200-119634400	Weak transcription	Fetal Stomach	stomach
35	chr6:119625200-119634400	Weak transcription	Thymus	Thymus
36	chr6:119625200-119635600	Weak transcription	Psoas Muscle	Psoas
37	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:119626400-119629400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:119626600-119629000	Weak transcription	Osteobl	bone
40	chr6:119627200-119636800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:119627400-119631200	Weak transcription	Fetal Kidney	kidney
42	chr6:119627600-119631800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:119627800-119628800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:119627800-119635600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:119627800-119667000	Weak transcription	Gastric	stomach
46	chr6:119628000-119629000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:119628000-119629200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:119628000-119629200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:119628000-119629200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:119628000-119629200	Weak transcription	Monocytes-CD14+_RO01746	blood

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