Variant report

Variant	rs12143767
Chromosome Location	chr1:10898751-10898752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10892493..10894572-chr1:10896647..10899321,2	MCF-7	breast:
2	chr1:10893753..10896374-chr1:10897751..10899906,2	K562	blood:
3	chr1:10897062..10899441-chr1:10901795..10903636,2	MCF-7	breast:
4	chr1:10897988..10900624-chr1:10903657..10906598,2	K562	blood:
5	chr1:10892296..10895253-chr1:10897751..10901247,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082083	0.96[AFR][1000 genomes]
rs12142503	0.92[EUR][1000 genomes]
rs12731652	1.00[ASN][1000 genomes]
rs12740860	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617195	1.00[ASN][1000 genomes]
rs1776218	1.00[ASN][1000 genomes]
rs1776219	1.00[ASN][1000 genomes]
rs34217099	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35126763	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35261279	0.85[EUR][1000 genomes]
rs35414554	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35677622	1.00[ASN][1000 genomes]
rs35858703	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71509069	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864610	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv871617	chr1:10858746-10935232	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv871155	chr1:10858746-10998509	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr1:10883600-10902800	Weak transcription	Right Atrium	heart
2	chr1:10895000-10900200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:10895200-10900200	Enhancers	Brain Germinal Matrix	brain
4	chr1:10896000-10899000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:10896000-10899400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr1:10896000-10900200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:10896000-10900200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:10896400-10899000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:10896400-10899400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:10896400-10900200	Weak transcription	Pancreas	Pancrea
11	chr1:10896400-10901200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:10897000-10899800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:10897400-10899600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:10897600-10899000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:10897600-10899000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:10897600-10899800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:10897600-10900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:10897600-10901000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:10897800-10899000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:10897800-10900200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:10898600-10898800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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