Variant report

Variant	rs72674544
Chromosome Location	chr6:76615983-76615984
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	chr6:76613924..76617174-chr6:76621064..76625151,5	MCF-7	breast:
2	chr6:76600564..76603457-chr6:76615084..76617457,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11964201	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11967411	1.00[EUR][1000 genomes]
rs11968058	1.00[EUR][1000 genomes]
rs11968226	0.86[EUR][1000 genomes]
rs11969264	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12660330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12660493	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12662248	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12662475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12662565	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12662672	0.86[EUR][1000 genomes]
rs12662718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12662824	0.80[EUR][1000 genomes]
rs12662879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663535	0.86[EUR][1000 genomes]
rs12664146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12664721	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12664742	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12665404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13205059	0.86[EUR][1000 genomes]
rs16879451	0.86[EUR][1000 genomes]
rs2273858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3798436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798450	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3798451	0.86[EUR][1000 genomes]
rs3798452	0.80[EUR][1000 genomes]
rs3798453	0.80[EUR][1000 genomes]
rs3798456	0.80[EUR][1000 genomes]
rs56251027	0.86[EUR][1000 genomes]
rs59710688	1.00[EUR][1000 genomes]
rs60360183	0.86[EUR][1000 genomes]
rs61620194	1.00[EUR][1000 genomes]
rs67182025	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654756	0.86[EUR][1000 genomes]
rs72654757	0.86[EUR][1000 genomes]
rs72654758	0.86[EUR][1000 genomes]
rs72654759	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654760	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654761	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654762	0.86[EUR][1000 genomes]
rs72654764	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654765	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654766	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654767	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72654770	0.86[EUR][1000 genomes]
rs72654771	1.00[EUR][1000 genomes]
rs72654772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654773	1.00[EUR][1000 genomes]
rs72654774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654775	1.00[EUR][1000 genomes]
rs72654776	1.00[EUR][1000 genomes]
rs72654777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72654783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72654784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72654785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72654786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72654787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72654788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72654789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674545	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751021	1.00[EUR][1000 genomes]
rs73751022	1.00[EUR][1000 genomes]
rs73751024	1.00[EUR][1000 genomes]
rs7761217	0.80[EUR][1000 genomes]
rs9443187	0.86[EUR][1000 genomes]
rs9443191	0.86[EUR][1000 genomes]
rs9443192	0.86[EUR][1000 genomes]
rs9447543	0.80[EUR][1000 genomes]
rs9447544	0.86[EUR][1000 genomes]
rs9447545	0.86[EUR][1000 genomes]
rs9447546	0.86[EUR][1000 genomes]
rs9447549	0.80[EUR][1000 genomes]
rs9447552	0.86[EUR][1000 genomes]
rs9447555	0.86[EUR][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	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76573000-76624000	Weak transcription	Placenta	Placenta
2	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
3	chr6:76577200-76624600	Weak transcription	Fetal Kidney	kidney
4	chr6:76583800-76624600	Weak transcription	Pancreas	Pancrea
5	chr6:76584200-76629400	Weak transcription	Ovary	ovary
6	chr6:76584400-76623800	Weak transcription	Lung	lung
7	chr6:76584800-76644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:76585800-76624000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:76585800-76624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:76585800-76626800	Weak transcription	Left Ventricle	heart
11	chr6:76585800-76644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:76586000-76627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:76586200-76624400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:76587600-76623800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:76592600-76624400	Weak transcription	Osteobl	bone
16	chr6:76592800-76631800	Weak transcription	NHEK	skin
17	chr6:76594600-76632200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:76597200-76624600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:76600200-76631800	Weak transcription	HMEC	breast
20	chr6:76600400-76624600	Weak transcription	Brain Substantia Nigra	brain
21	chr6:76602400-76619200	Weak transcription	HUVEC	blood vessel
22	chr6:76602600-76624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:76603600-76619000	Weak transcription	Liver	Liver
24	chr6:76604000-76624400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:76604400-76623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:76604400-76627000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:76604600-76623800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:76606200-76623600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:76606600-76623400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:76606600-76623800	Weak transcription	Adipose Nuclei	Adipose
31	chr6:76606600-76628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:76606600-76629200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:76606600-76632000	Weak transcription	NHDF-Ad	bronchial
34	chr6:76606800-76619000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:76606800-76619200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:76606800-76624000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:76606800-76632000	Weak transcription	HSMM	muscle
38	chr6:76607000-76623800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:76608600-76616800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:76608600-76622600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:76608600-76624400	Weak transcription	Esophagus	oesophagus
42	chr6:76608600-76628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:76608600-76629400	Weak transcription	Aorta	Aorta
44	chr6:76611600-76624200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:76615200-76623600	Weak transcription	Fetal Intestine Large	intestine
46	chr6:76615200-76628400	Weak transcription	Fetal Intestine Small	intestine
47	chr6:76615400-76616000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr6:76615400-76622600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:76615600-76623800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:76615800-76617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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