Variant report

Variant	rs58708213
Chromosome Location	chr1:10846144-10846145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10814415..10817304-chr1:10845859..10848548,2	K562	blood:
2	chr1:10844848..10846600-chr1:10849657..10852502,2	MCF-7	breast:
3	chr1:10845553..10848125-chr1:10850138..10852600,3	K562	blood:
4	chr1:10842482..10848125-chr1:10848980..10851638,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1737618	0.95[ASN][1000 genomes]
rs2387416	0.85[ASN][1000 genomes]
rs2387417	0.85[ASN][1000 genomes]
rs55926240	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs800761	0.95[ASN][1000 genomes]
rs811855	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv871772	chr1:10832322-10894724	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv870589	chr1:10840905-10901994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:10832600-10853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10838600-10852400	Enhancers	Fetal Heart	heart
3	chr1:10840400-10846200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:10840400-10848600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:10841600-10848200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:10841800-10847800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:10842600-10851400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:10843400-10849000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:10843400-10849800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:10843600-10847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:10844000-10850200	Enhancers	Right Ventricle	heart
12	chr1:10844400-10849600	Enhancers	Colon Smooth Muscle	Colon
13	chr1:10844600-10850800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr1:10844800-10847000	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:10845000-10851800	Enhancers	Stomach Mucosa	stomach
16	chr1:10845200-10850400	Enhancers	Left Ventricle	heart
17	chr1:10845400-10846400	Enhancers	Colonic Mucosa	Colon
18	chr1:10845400-10846400	Enhancers	Esophagus	oesophagus
19	chr1:10845400-10850400	Enhancers	Psoas Muscle	Psoas
20	chr1:10845600-10846200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
21	chr1:10845600-10846200	Genic enhancers	Gastric	stomach
22	chr1:10845600-10846200	Enhancers	Lung	lung
23	chr1:10845600-10846200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr1:10845600-10846400	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:10845600-10846600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:10845600-10848600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr1:10845800-10848000	Enhancers	Brain Germinal Matrix	brain
28	chr1:10845800-10848200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:10846000-10847200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:10846000-10847200	Weak transcription	Right Atrium	heart
31	chr1:10846000-10848200	Weak transcription	Rectal Mucosa Donor 31	rectum

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