Variant report

Variant	rs6682194
Chromosome Location	chr1:175978568-175978569
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	chr1:175976933..175978782-chr1:175988459..175991080,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10913118	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11810706	0.96[EUR][1000 genomes]
rs12135395	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12138008	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12723724	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12729524	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12741940	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12756741	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16849486	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2481646	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2481655	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2481658	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2502823	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502829	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34973462	0.96[EUR][1000 genomes]
rs3934392	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6660080	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7530719	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549160	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175946000-175996000	Weak transcription	HMEC	breast
2	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
3	chr1:175954000-175987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:175957000-175981200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:175958000-175987800	Weak transcription	Fetal Thymus	thymus
7	chr1:175958800-175980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:175971400-175981200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:175971600-175981200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:175973600-176003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:175974000-176003000	Weak transcription	NH-A	brain
12	chr1:175974400-175988200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:175974600-175981800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:175974600-175988800	Weak transcription	Pancreas	Pancrea
15	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:175975400-176003400	Weak transcription	NHLF	lung
17	chr1:175975600-175981200	Weak transcription	Lung	lung
18	chr1:175975600-175981400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:175975600-175988400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:175975800-175980600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:175975800-175988800	Weak transcription	Ovary	ovary
22	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
23	chr1:175976000-175981600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:175976400-175981000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:175976400-175981000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:175976400-175996000	Weak transcription	HUVEC	blood vessel
27	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:175976600-176009400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:175977000-175978800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:175977400-175978600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:175977400-175978600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:175977400-175978800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr1:175977400-175978800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:175977400-175979400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr1:175977400-175979400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:175977400-175979400	Strong transcription	Dnd41	blood
38	chr1:175977400-175980000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:175977400-175982200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:175977600-175978800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:175977600-175980800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:175977600-175981000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:175977600-175988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:175977800-175978600	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr1:175977800-175978800	Strong transcription	A549	lung
46	chr1:175977800-175980800	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr1:175978200-175980000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:175978200-175981400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:175978200-175985200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:175978200-175985200	Weak transcription	Fetal Heart	heart

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