Variant report

Variant	rs12097387
Chromosome Location	chr1:221212522-221212523
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	chr1:221207871..221209388-chr1:221212017..221214395,2	K562	blood:
2	chr1:221129375..221132337-chr1:221211581..221213547,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11118661	1.00[EUR][1000 genomes]
rs11804822	1.00[EUR][1000 genomes]
rs11811531	1.00[EUR][1000 genomes]
rs12072517	1.00[EUR][1000 genomes]
rs12073583	1.00[EUR][1000 genomes]
rs12086603	1.00[EUR][1000 genomes]
rs58220035	1.00[EUR][1000 genomes]
rs58582639	1.00[EUR][1000 genomes]
rs61501165	1.00[EUR][1000 genomes]
rs6663534	1.00[EUR][1000 genomes]
rs73094956	1.00[EUR][1000 genomes]
rs73101522	1.00[EUR][1000 genomes]
rs74143437	1.00[EUR][1000 genomes]
rs74144384	1.00[EUR][1000 genomes]
rs74144425	1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221207400-221212800	Weak transcription	HSMMtube	muscle
2	chr1:221207400-221213000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:221208800-221214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:221209000-221212600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:221209600-221213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:221209600-221214000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:221209600-221214000	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:221209600-221218600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:221209600-221219600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:221209800-221212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:221209800-221213200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:221209800-221214200	Weak transcription	NHLF	lung
13	chr1:221210000-221212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:221210000-221212800	Weak transcription	NHDF-Ad	bronchial
15	chr1:221210000-221213000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:221210000-221213000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:221210000-221213000	Weak transcription	K562	blood
18	chr1:221210000-221213000	Weak transcription	Osteobl	bone
19	chr1:221210000-221214000	Weak transcription	Hela-S3	cervix
20	chr1:221210000-221214200	Weak transcription	HMEC	breast
21	chr1:221210000-221214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:221210200-221213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:221212200-221213400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:221212400-221213600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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