Variant report

Variant	rs822516
Chromosome Location	chr1:155842568-155842569
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	chr1:155836334..155839218-chr1:155841025..155842829,2	K562	blood:
2	chr1:155837073..155839733-chr1:155842304..155845191,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1094462	1.00[GIH][hapmap]
rs2152051	0.81[YRI][hapmap]
rs552778	1.00[GIH][hapmap]
rs605472	0.81[YRI][hapmap]
rs621181	1.00[GIH][hapmap]
rs6687169	0.81[YRI][hapmap]
rs822019	1.00[GIH][hapmap]
rs822497	1.00[GIH][hapmap]
rs822507	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs822519	0.89[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155830400-155843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155830400-155843800	Weak transcription	Lung	lung
4	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
5	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
18	chr1:155834600-155850200	Weak transcription	HSMM	muscle
19	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
20	chr1:155837200-155843000	Weak transcription	Fetal Thymus	thymus
21	chr1:155837400-155844400	Enhancers	Fetal Brain Male	brain
22	chr1:155837600-155863000	Weak transcription	Colonic Mucosa	Colon
23	chr1:155838200-155843400	Weak transcription	Osteobl	bone
24	chr1:155839800-155843400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:155840000-155850200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:155840200-155842600	Enhancers	Fetal Muscle Leg	muscle
27	chr1:155840400-155842600	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:155840400-155842800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:155840400-155850000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:155840800-155842800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:155841000-155843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:155841200-155842800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:155841200-155842800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:155841200-155843800	Enhancers	Brain Substantia Nigra	brain
35	chr1:155841200-155849600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:155841200-155850200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:155841400-155842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155841400-155842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:155841400-155842600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:155841400-155842600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:155841400-155842800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:155841400-155843800	Flanking Active TSS	Fetal Brain Female	brain
43	chr1:155841400-155844400	Weak transcription	Pancreas	Pancrea
44	chr1:155841400-155849600	Weak transcription	Aorta	Aorta
45	chr1:155841400-155850000	Weak transcription	NHLF	lung
46	chr1:155841400-155850200	Weak transcription	Ovary	ovary
47	chr1:155841400-155863000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:155841600-155843000	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr1:155841600-155843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:155841600-155843400	Weak transcription	NH-A	brain

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