Variant report

Variant	rs59058733
Chromosome Location	chr7:87502048-87502049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:87501956-87502050	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87499423..87502293-chr7:87503771..87507014,4	MCF-7	breast:

Variant related genes	Relation type
DBF4	TF binding region
ENSG00000006634	Chromatin interaction
ENSG00000075303	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10215700	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10215973	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10226830	0.86[EUR][1000 genomes]
rs10226849	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10227951	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230718	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10232457	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237097	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237201	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10238564	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10239908	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10239922	1.00[EUR][1000 genomes]
rs10244734	0.91[EUR][1000 genomes]
rs10245767	0.95[EUR][1000 genomes]
rs10246786	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247258	0.96[EUR][1000 genomes]
rs10252990	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253106	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259182	0.96[EUR][1000 genomes]
rs10260007	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10264856	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10268868	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10269158	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10276499	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10276819	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10952899	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532279	0.96[EUR][1000 genomes]
rs12532941	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533477	0.96[EUR][1000 genomes]
rs12539395	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12540032	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669619	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13438651	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17149864	0.91[EUR][1000 genomes]
rs17150009	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073985	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2106522	0.91[EUR][1000 genomes]
rs2157926	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2188527	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2188828	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214101	0.91[EUR][1000 genomes]
rs2214106	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285646	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285649	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373574	0.93[EUR][1000 genomes]
rs28437979	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28449219	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28449354	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28537604	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28546778	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28627774	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28642834	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28645115	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28774398	0.96[EUR][1000 genomes]
rs28831998	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58638862	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465117	0.91[EUR][1000 genomes]
rs6948061	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6952943	0.95[EUR][1000 genomes]
rs6972098	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706914	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706916	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706922	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73706924	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73706950	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790722	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7798074	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801337	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655954	0.96[EUR][1000 genomes]
rs9655955	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976602	0.96[EUR][1000 genomes]
rs992422	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87481000-87503800	Weak transcription	NH-A	brain
2	chr7:87481200-87504000	Weak transcription	Osteobl	bone
3	chr7:87482200-87503200	Weak transcription	HMEC	breast
4	chr7:87486000-87504400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:87486400-87504800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:87487400-87503800	Weak transcription	HUVEC	blood vessel
7	chr7:87488000-87503400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:87488200-87504600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:87491400-87503600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:87493000-87502600	ZNF genes & repeats	GM12878-XiMat	blood
11	chr7:87495400-87502600	ZNF genes & repeats	Dnd41	blood
12	chr7:87495800-87503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:87496000-87503000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:87496000-87504000	Weak transcription	Small Intestine	intestine
15	chr7:87496400-87504600	Weak transcription	Psoas Muscle	Psoas
16	chr7:87497400-87503600	Weak transcription	Fetal Kidney	kidney
17	chr7:87498000-87503000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:87498800-87503800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:87499000-87502200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:87499600-87502200	ZNF genes & repeats	K562	blood
21	chr7:87500200-87502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:87500200-87504400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:87500400-87503000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:87500400-87503600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:87500400-87503800	Weak transcription	Liver	Liver
26	chr7:87500600-87502800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:87500600-87502800	Weak transcription	Pancreas	Pancrea
28	chr7:87500600-87503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:87500600-87503000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:87500600-87503200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:87500600-87503400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:87500600-87503400	Weak transcription	A549	lung
33	chr7:87500600-87503600	Weak transcription	HSMM	muscle
34	chr7:87500600-87503600	Weak transcription	NHLF	lung
35	chr7:87500600-87504000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:87500600-87504400	Weak transcription	Colonic Mucosa	Colon
37	chr7:87500600-87504600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:87500600-87504600	Weak transcription	Lung	lung
39	chr7:87500600-87505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:87500600-87505000	Weak transcription	Aorta	Aorta
41	chr7:87500600-87505000	Weak transcription	Spleen	Spleen
42	chr7:87500800-87502800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:87500800-87503000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:87500800-87503000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:87500800-87503000	Weak transcription	Hela-S3	cervix
46	chr7:87500800-87503200	Weak transcription	NHEK	skin
47	chr7:87500800-87503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:87500800-87503400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:87500800-87503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:87500800-87503400	Weak transcription	Fetal Thymus	thymus

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