Variant report

Variant	rs3000708
Chromosome Location	chr10:43854273-43854274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43845683..43851518-chr10:43853877..43859694,14	MCF-7	breast:
2	chr10:43854173..43856222-chr10:43890034..43892908,2	MCF-7	breast:
3	chr10:43853906..43856900-chr10:43857802..43860629,2	MCF-7	breast:
4	chr10:43853717..43856256-chr10:43898342..43901234,2	MCF-7	breast:
5	chr10:43853521..43859723-chr10:43870896..43875408,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10732897	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10793430	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10899792	0.98[ASN][1000 genomes]
rs10899795	0.96[ASN][1000 genomes]
rs11238522	0.99[ASN][1000 genomes]
rs1126487	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1126709	0.81[AMR][1000 genomes]
rs12221341	0.98[ASN][1000 genomes]
rs2243492	0.95[ASN][1000 genomes]
rs2245413	0.98[ASN][1000 genomes]
rs2245710	0.98[ASN][1000 genomes]
rs2248706	0.81[AFR][1000 genomes]
rs2252744	0.84[ASN][1000 genomes]
rs2252761	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253263	0.82[ASN][1000 genomes]
rs2256613	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2493661	0.89[ASN][1000 genomes]
rs2819021	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4245604	0.98[ASN][1000 genomes]
rs4627023	0.82[ASN][1000 genomes]
rs60789236	0.99[ASN][1000 genomes]
rs7070769	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7905676	0.81[AMR][1000 genomes]
rs7912358	0.96[ASN][1000 genomes]
rs7918726	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7920539	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43844400-43857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:43846600-43857200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:43849000-43857000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:43850000-43857000	Weak transcription	Brain Angular Gyrus	brain
5	chr10:43850000-43857000	Weak transcription	Brain Anterior Caudate	brain
6	chr10:43850000-43857000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:43851400-43857200	Weak transcription	Brain Substantia Nigra	brain
8	chr10:43851800-43856400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:43851800-43856600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:43851800-43857000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:43851800-43857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:43851800-43857000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:43851800-43857000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:43851800-43857200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:43851800-43857200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:43851800-43857200	Weak transcription	HSMMtube	muscle
17	chr10:43852000-43854800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:43852000-43855600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:43852000-43855800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:43852000-43856600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:43852000-43856600	Weak transcription	Pancreas	Pancrea
22	chr10:43852000-43857000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:43852000-43857000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:43852000-43857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:43852000-43857200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr10:43852000-43857200	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:43852200-43857000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:43852200-43857000	Weak transcription	Fetal Intestine Small	intestine
29	chr10:43852200-43857200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:43852400-43854600	Weak transcription	HMEC	breast
31	chr10:43852400-43857000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr10:43852400-43857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:43852400-43857000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:43852400-43857200	Weak transcription	Stomach Mucosa	stomach
35	chr10:43852400-43857200	Weak transcription	NHEK	skin
36	chr10:43852600-43855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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