Variant report

Variant	rs17442343
Chromosome Location	chr6:119577547-119577548
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	chr6:119571388..119574605-chr6:119574866..119578406,5	K562	blood:
2	chr6:119577142..119579813-chr6:119669541..119672184,2	K562	blood:

Variant related genes	Relation type
ENSG00000111885	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];0.97[EUR][1000 genomes]
rs17442238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442478	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442505	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17514202	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17526989	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17527003	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17527153	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17536339	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17619366	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2038768	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28635805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798611	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56320899	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56926474	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6569064	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6911026	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6926266	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6933973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941142	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6941514	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73769010	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73769011	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7740521	0.97[EUR][1000 genomes]
rs7740969	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7743309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7748940	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7763451	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7763610	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7767940	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9481896	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489640	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489641	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489642	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489643	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489644	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489646	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489647	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489648	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489649	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489651	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489652	0.86[EUR][1000 genomes]
rs9489655	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489657	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489658	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489659	1.00[AMR][1000 genomes];0.97[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	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119558800-119577600	Weak transcription	Aorta	Aorta
3	chr6:119558800-119578200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:119558800-119578200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:119558800-119578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:119558800-119578600	Weak transcription	Fetal Thymus	thymus
7	chr6:119558800-119582200	Weak transcription	Colonic Mucosa	Colon
8	chr6:119558800-119589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:119558800-119590200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:119558800-119590400	Weak transcription	GM12878-XiMat	blood
11	chr6:119558800-119602000	Weak transcription	Gastric	stomach
12	chr6:119562200-119579400	Weak transcription	NHEK	skin
13	chr6:119562600-119580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:119562600-119580000	Weak transcription	Small Intestine	intestine
15	chr6:119562800-119582200	Weak transcription	Pancreas	Pancrea
16	chr6:119562800-119583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:119562800-119590200	Weak transcription	Fetal Stomach	stomach
18	chr6:119562800-119590800	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:119563400-119588000	Weak transcription	Fetal Kidney	kidney
20	chr6:119563400-119590200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:119566800-119582600	Weak transcription	Fetal Lung	lung
22	chr6:119568600-119592600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:119568800-119577800	Strong transcription	HepG2	liver
24	chr6:119569000-119581600	Weak transcription	NHDF-Ad	bronchial
25	chr6:119569000-119583000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:119569200-119589800	Weak transcription	Fetal Intestine Large	intestine
27	chr6:119569200-119590000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:119569200-119590400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:119569200-119591600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:119569200-119591600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:119569400-119581400	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:119569400-119590000	Weak transcription	Placenta	Placenta
33	chr6:119569400-119590200	Weak transcription	Left Ventricle	heart
34	chr6:119569400-119591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:119569800-119582600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:119570000-119580000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:119571000-119581400	Weak transcription	Adipose Nuclei	Adipose
38	chr6:119571600-119583800	Weak transcription	Primary B cells from cord blood	blood
39	chr6:119573000-119580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:119574000-119578200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:119574200-119583800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:119574200-119589800	Weak transcription	Fetal Intestine Small	intestine
43	chr6:119574800-119581400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:119575600-119577600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:119576000-119578800	Enhancers	Primary T cells from cord blood	blood
46	chr6:119576200-119578000	Genic enhancers	K562	blood
47	chr6:119576400-119578800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:119576600-119578000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:119576800-119577800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:119576800-119578600	Enhancers	Primary T helper cells fromperipheralblood	blood

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