Variant report

Variant	rs7549638
Chromosome Location	chr1:173363560-173363561
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	chr1:173354554..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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425225	1.00[EUR][1000 genomes]
rs6681901	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6689832	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs6700353	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs73041119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512403	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7523278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7529929	1.00[CEU][hapmap]
rs7544153	1.00[AMR][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:34 , 50 per page) page: 1

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	chr1:173360600-173364000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:173361600-173363600	Enhancers	Osteobl	bone
12	chr1:173361600-173368400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:173362000-173364200	Enhancers	HSMMtube	muscle
14	chr1:173362400-173369600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:173362600-173363800	Weak transcription	Esophagus	oesophagus
16	chr1:173362600-173371200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:173362600-173381200	Weak transcription	Ovary	ovary
18	chr1:173362800-173363600	Weak transcription	Fetal Lung	lung
19	chr1:173362800-173363800	Weak transcription	Placenta	Placenta
20	chr1:173362800-173364000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:173362800-173371600	Weak transcription	Left Ventricle	heart
22	chr1:173362800-173374400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:173362800-173375800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:173362800-173379800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:173362800-173382600	Weak transcription	Fetal Heart	heart
26	chr1:173363000-173363600	Enhancers	NHDF-Ad	bronchial
27	chr1:173363000-173365000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:173363000-173365000	Weak transcription	Hela-S3	cervix
29	chr1:173363000-173365200	Weak transcription	NHEK	skin
30	chr1:173363000-173374200	Weak transcription	HMEC	breast
31	chr1:173363000-173374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:173363000-173375800	Weak transcription	K562	blood
33	chr1:173363000-173379000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:173363400-173374200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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