Variant report

Variant	rs4391670
Chromosome Location	chr1:221207728-221207729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221206891..221209898-chr1:221213068..221215550,3	K562	blood:
2	chr1:221200117..221203706-chr1:221205688..221208505,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10458466	0.84[EUR][1000 genomes]
rs10458469	0.85[EUR][1000 genomes]
rs10746405	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863575	0.85[EUR][1000 genomes]
rs10863576	0.84[EUR][1000 genomes]
rs10863577	0.85[EUR][1000 genomes]
rs10863578	0.97[ASN][1000 genomes]
rs11118634	0.84[EUR][1000 genomes]
rs11118635	0.84[EUR][1000 genomes]
rs11118641	0.82[ASN][1000 genomes]
rs11118653	0.80[ASN][1000 genomes]
rs17009346	0.82[ASN][1000 genomes]
rs17009398	0.82[ASN][1000 genomes]
rs4142348	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4625285	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846682	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846683	0.84[EUR][1000 genomes]
rs4846684	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55966903	0.82[ASN][1000 genomes]
rs58513421	0.82[ASN][1000 genomes]
rs6661535	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6687526	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6687905	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699300	0.82[ASN][1000 genomes]
rs715300	0.81[ASN][1000 genomes]
rs7511784	0.81[ASN][1000 genomes]
rs7512831	0.82[ASN][1000 genomes]
rs7517569	0.90[EUR][1000 genomes]
rs7528865	0.80[AMR][1000 genomes]
rs7542237	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:221203400-221209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:221204600-221210000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:221205000-221208400	Weak transcription	Left Ventricle	heart
5	chr1:221205000-221208400	Enhancers	Hela-S3	cervix
6	chr1:221205000-221209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:221205800-221209000	Enhancers	HUVEC	blood vessel
8	chr1:221205800-221210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:221206200-221209600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:221206200-221210000	Enhancers	K562	blood
11	chr1:221206400-221208400	Weak transcription	HMEC	breast
12	chr1:221206600-221209600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:221206800-221207800	Enhancers	Fetal Muscle Leg	muscle
14	chr1:221206800-221208800	Weak transcription	Osteobl	bone
15	chr1:221207000-221209000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:221207200-221207800	Enhancers	Psoas Muscle	Psoas
17	chr1:221207200-221208000	Enhancers	Fetal Stomach	stomach
18	chr1:221207200-221208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:221207200-221208600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:221207200-221208600	Weak transcription	NHDF-Ad	bronchial
21	chr1:221207200-221208800	Weak transcription	HSMM	muscle
22	chr1:221207400-221208400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:221207400-221208400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:221207400-221208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:221207400-221208800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:221207400-221208800	Weak transcription	NHLF	lung
27	chr1:221207400-221212800	Weak transcription	HSMMtube	muscle
28	chr1:221207400-221213000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:221207600-221208000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:221207600-221208600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:221207600-221210000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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