Variant report

Variant	rs4945638
Chromosome Location	chr6:119768643-119768644
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	chr6:119767735..119770196-chr6:119787942..119790551,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11153815	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11153826	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12526344	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12528127	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529667	0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12530171	0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1295374	0.81[ASN][1000 genomes]
rs1295380	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1295394	0.81[ASN][1000 genomes]
rs1342313	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1418376	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1909506	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1995224	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2066350	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2066351	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2153825	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2295203	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2357505	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3778110	0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs4945636	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4946416	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946421	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4946428	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4946430	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56095132	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58391013	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6900388	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6903680	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6925366	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6935847	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6936821	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72952933	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72952941	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7761301	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7774019	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs885028	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372528	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9372531	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9372534	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9374785	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9374786	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9374789	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs9374790	0.83[ASN][1000 genomes]
rs9374797	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9374798	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9374799	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9374800	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9374801	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9374802	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9374803	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9385071	0.85[AMR][1000 genomes]
rs9385074	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9385075	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9387645	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9387647	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9387650	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9387654	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398506	0.81[CHB][hapmap];0.80[AMR][1000 genomes]
rs9398507	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9398508	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9398509	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9401136	0.82[AMR][1000 genomes]
rs9401149	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv1845804	chr6:119747112-119771715	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119760600-119774800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:119763400-119772200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:119763600-119772200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:119766000-119769000	Enhancers	Stomach Mucosa	stomach
5	chr6:119766000-119770000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:119766000-119770200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:119766600-119768800	Enhancers	Brain Anterior Caudate	brain
8	chr6:119766600-119768800	Enhancers	Duodenum Mucosa	Duodenum
9	chr6:119766800-119768800	Enhancers	Fetal Lung	lung
10	chr6:119767200-119768800	Enhancers	Gastric	stomach
11	chr6:119767200-119770000	Weak transcription	Fetal Thymus	thymus
12	chr6:119767400-119770200	Weak transcription	Spleen	Spleen
13	chr6:119767600-119770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:119767800-119770000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:119767800-119770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:119767800-119770400	Weak transcription	Fetal Intestine Small	intestine
17	chr6:119768000-119771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:119768200-119768800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:119768200-119770000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:119768200-119770000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:119768200-119770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:119768200-119770200	Weak transcription	Dnd41	blood
23	chr6:119768200-119770400	Weak transcription	Pancreas	Pancrea
24	chr6:119768200-119774000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:119768200-119780400	Weak transcription	Aorta	Aorta
26	chr6:119768400-119768800	Enhancers	Adipose Nuclei	Adipose
27	chr6:119768400-119768800	Weak transcription	Placenta	Placenta
28	chr6:119768400-119768800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:119768400-119770000	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:119768400-119770000	Weak transcription	GM12878-XiMat	blood
31	chr6:119768400-119770200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:119768400-119770200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:119768400-119770400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:119768400-119771200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:119768600-119768800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:119768600-119769000	Enhancers	Small Intestine	intestine
37	chr6:119768600-119770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:119768600-119770800	Weak transcription	Rectal Mucosa Donor 31	rectum

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