Variant report

Variant	rs703628
Chromosome Location	chr12:104040692-104040693
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	chr12:104031257..104033295-chr12:104039042..104040756,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1993919	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs703612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs703613	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs703617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs703620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs703621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs703622	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73187882	1.00[AFR][1000 genomes]
rs831431	0.85[ASN][1000 genomes]
rs831685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs903185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052275	chr12:104008918-104044241	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104033200-104062200	Weak transcription	Spleen	Spleen
2	chr12:104038400-104041600	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:104038800-104041400	Enhancers	Colon Smooth Muscle	Colon
4	chr12:104038800-104042000	Enhancers	HSMM	muscle
5	chr12:104039000-104040800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:104039600-104040800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104039600-104041400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:104040200-104041600	Enhancers	Fetal Heart	heart
9	chr12:104040400-104041000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:104040400-104042000	Enhancers	NHEK	skin
11	chr12:104040400-104042200	Enhancers	HMEC	breast
12	chr12:104040600-104040800	Enhancers	Fetal Stomach	stomach
13	chr12:104040600-104041000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:104040600-104041000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104040600-104041000	Flanking Active TSS	HSMMtube	muscle
16	chr12:104040600-104041200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:104040600-104041600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:104040600-104041600	Enhancers	NH-A	brain
19	chr12:104040600-104041800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:104040600-104042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104040600-104042400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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