Variant report

Variant	rs10000812
Chromosome Location	chr4:119270794-119270795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119202395..119204664-chr4:119270444..119272210,2	MCF-7	breast:
2	chr4:119200018..119201698-chr4:119270119..119271961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1022287	0.99[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1022288	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1040105	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1110948	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12505156	0.83[ASN][1000 genomes]
rs13124806	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1514657	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1514659	0.92[ASN][1000 genomes]
rs1810260	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2049362	0.83[ASN][1000 genomes]
rs2140475	0.81[ASN][1000 genomes]
rs2389620	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2892799	0.82[ASN][1000 genomes]
rs4279285	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4362895	0.82[ASN][1000 genomes]
rs4546313	0.87[ASN][1000 genomes]
rs4833566	0.83[ASN][1000 genomes]
rs4833567	0.87[ASN][1000 genomes]
rs4834679	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs581739	0.88[ASN][1000 genomes]
rs582448	0.89[ASN][1000 genomes]
rs586073	0.88[ASN][1000 genomes]
rs586224	0.88[ASN][1000 genomes]
rs593966	0.88[ASN][1000 genomes]
rs597881	0.88[ASN][1000 genomes]
rs59799599	0.89[EUR][1000 genomes]
rs607961	0.87[ASN][1000 genomes]
rs608228	0.89[ASN][1000 genomes]
rs610222	0.87[ASN][1000 genomes]
rs613083	0.88[ASN][1000 genomes]
rs613443	0.88[ASN][1000 genomes]
rs615165	0.83[ASN][1000 genomes]
rs615837	0.86[ASN][1000 genomes]
rs617140	0.89[ASN][1000 genomes]
rs62328865	0.88[ASN][1000 genomes]
rs62328871	0.89[ASN][1000 genomes]
rs625546	0.86[ASN][1000 genomes]
rs627249	0.89[ASN][1000 genomes]
rs641962	0.88[ASN][1000 genomes]
rs644797	0.83[ASN][1000 genomes]
rs662086	0.88[ASN][1000 genomes]
rs674514	0.88[ASN][1000 genomes]
rs678177	0.87[ASN][1000 genomes]
rs6810739	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6828232	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837896	0.83[ASN][1000 genomes]
rs6838716	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs705838	0.95[ASN][1000 genomes]
rs705841	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7669243	0.96[ASN][1000 genomes]
rs7688951	0.87[EUR][1000 genomes]
rs7699653	0.81[ASN][1000 genomes]
rs788647	0.95[ASN][1000 genomes]
rs788650	0.95[ASN][1000 genomes]
rs788651	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs788655	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs788656	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788658	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs788661	0.89[ASN][1000 genomes]
rs788662	0.88[ASN][1000 genomes]
rs788668	0.89[ASN][1000 genomes]
rs788669	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs871769	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs871770	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs908152	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119261600-119272200	Weak transcription	Fetal Brain Female	brain
2	chr4:119265600-119271600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:119265800-119270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:119266000-119270800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:119266000-119270800	Enhancers	NHEK	skin
6	chr4:119267400-119271400	Weak transcription	Osteobl	bone
7	chr4:119267400-119271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:119267400-119272200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:119267400-119273000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:119267400-119273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:119268000-119272400	Weak transcription	HMEC	breast
12	chr4:119268000-119273000	Weak transcription	Gastric	stomach
13	chr4:119268200-119273000	Weak transcription	Pancreas	Pancrea
14	chr4:119268400-119270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:119269000-119270800	Weak transcription	Fetal Brain Male	brain
16	chr4:119269000-119271800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:119269000-119272200	Weak transcription	NHDF-Ad	bronchial
18	chr4:119269200-119272600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:119270000-119270800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:119270200-119270800	Enhancers	NHLF	lung
21	chr4:119270600-119271000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:119270600-119271200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:119270600-119272600	Weak transcription	Stomach Mucosa	stomach

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