Variant report

Variant	rs7523278
Chromosome Location	chr1:173362448-173362449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173354554..173358698-chr1:173361290..173364638,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1418192	1.00[CEU][hapmap]
rs16845740	1.00[CEU][hapmap]
rs16845817	1.00[EUR][1000 genomes]
rs2422342	1.00[CEU][hapmap]
rs59010381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425225	1.00[EUR][1000 genomes]
rs6681901	1.00[CEU][hapmap]
rs6689832	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs6700353	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs73041119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512403	1.00[EUR][1000 genomes]
rs7529929	1.00[CEU][hapmap]
rs7544153	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7549638	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947503	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173345600-173368000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173346800-173363800	Weak transcription	Aorta	Aorta
3	chr1:173347200-173375000	Weak transcription	Spleen	Spleen
4	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
5	chr1:173354000-173379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:173354800-173363800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:173354800-173376000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:173355400-173379800	Weak transcription	Pancreas	Pancrea
9	chr1:173356400-173371400	Weak transcription	GM12878-XiMat	blood
10	chr1:173360600-173363000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:173360600-173364000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:173360800-173363400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:173361200-173362800	Enhancers	Fetal Lung	lung
14	chr1:173361600-173362600	Enhancers	NHDF-Ad	bronchial
15	chr1:173361600-173363000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:173361600-173363400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:173361600-173363600	Enhancers	Osteobl	bone
18	chr1:173361600-173368400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:173361800-173363000	Enhancers	NH-A	brain
20	chr1:173362000-173362800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:173362000-173362800	Enhancers	Fetal Heart	heart
22	chr1:173362000-173363000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:173362000-173363000	Enhancers	Hela-S3	cervix
24	chr1:173362000-173363000	Enhancers	HMEC	breast
25	chr1:173362000-173363000	Enhancers	K562	blood
26	chr1:173362000-173363000	Enhancers	NHEK	skin
27	chr1:173362000-173363000	Enhancers	NHLF	lung
28	chr1:173362000-173363400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:173362000-173364200	Enhancers	HSMMtube	muscle
30	chr1:173362200-173362600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:173362200-173362600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:173362200-173362600	Enhancers	Esophagus	oesophagus
33	chr1:173362200-173362600	Enhancers	HUVEC	blood vessel
34	chr1:173362200-173362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:173362200-173362800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:173362200-173362800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:173362200-173362800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:173362200-173362800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:173362200-173362800	Enhancers	Placenta	Placenta
40	chr1:173362200-173362800	Enhancers	Left Ventricle	heart
41	chr1:173362200-173362800	Flanking Active TSS	A549	lung
42	chr1:173362200-173363000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:173362200-173363000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:173362400-173362600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:173362400-173362600	Enhancers	Ovary	ovary
46	chr1:173362400-173362600	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:173362400-173362800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:173362400-173362800	Enhancers	Right Atrium	heart
49	chr1:173362400-173362800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:173362400-173362800	Flanking Active TSS	HSMM	muscle

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