Variant report

Variant	rs822519
Chromosome Location	chr1:155840706-155840707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155835432..155838182-chr1:155838226..155840731,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RXFP4-3	chr1:155839565-155841887	NONHSAT006771

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1010033	1.00[CEU][hapmap]
rs1018730	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs1055184	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs1094558	0.89[EUR][1000 genomes]
rs12138833	1.00[CEU][hapmap]
rs12747344	1.00[CEU][hapmap]
rs1544119	1.00[CEU][hapmap]
rs1749409	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs1765275	0.82[CEU][hapmap]
rs2275079	1.00[CEU][hapmap]
rs2275081	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs2364404	1.00[CEU][hapmap]
rs35588936	0.88[CEU][hapmap]
rs3768280	0.82[ASW][hapmap];1.00[CEU][hapmap]
rs4661162	1.00[CEU][hapmap]
rs4661172	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs493446	1.00[CEU][hapmap]
rs506688	0.82[ASW][hapmap];1.00[CEU][hapmap]
rs527113	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs572609	0.82[ASW][hapmap];1.00[CEU][hapmap]
rs605025	1.00[CEU][hapmap]
rs6660802	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs6667096	1.00[CEU][hapmap]
rs822503	1.00[CEU][hapmap]
rs822506	0.85[EUR][1000 genomes]
rs822507	0.92[EUR][1000 genomes]
rs822516	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155829600-155841000	Weak transcription	Pancreas	Pancrea
2	chr1:155830000-155869000	Weak transcription	Gastric	stomach
3	chr1:155830200-155841000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:155830400-155841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155830400-155843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:155830400-155843800	Weak transcription	Lung	lung
7	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
8	chr1:155830600-155841000	Weak transcription	Left Ventricle	heart
9	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:155831000-155840800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:155831200-155841200	Weak transcription	NHDF-Ad	bronchial
22	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
24	chr1:155832600-155841200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:155834600-155850200	Weak transcription	HSMM	muscle
26	chr1:155835000-155840800	Weak transcription	HSMMtube	muscle
27	chr1:155836200-155842000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
29	chr1:155837200-155840800	Genic enhancers	Brain Hippocampus Middle	brain
30	chr1:155837200-155840800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:155837200-155841000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:155837200-155841000	Genic enhancers	Brain Cingulate Gyrus	brain
33	chr1:155837200-155841000	Strong transcription	Fetal Stomach	stomach
34	chr1:155837200-155841200	Genic enhancers	Brain Anterior Caudate	brain
35	chr1:155837200-155843000	Weak transcription	Fetal Thymus	thymus
36	chr1:155837400-155841400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:155837400-155841800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:155837400-155844400	Enhancers	Fetal Brain Male	brain
39	chr1:155837600-155863000	Weak transcription	Colonic Mucosa	Colon
40	chr1:155837800-155841000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:155837800-155841000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:155838000-155841200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:155838000-155841400	Strong transcription	Aorta	Aorta
44	chr1:155838000-155841800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:155838200-155841400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
46	chr1:155838200-155841800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:155838200-155843400	Weak transcription	Osteobl	bone
48	chr1:155838400-155841200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:155838400-155841600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
50	chr1:155838600-155841000	Weak transcription	NHLF	lung

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