Variant report

Variant	rs377612
Chromosome Location	chr7:101713590-101713591
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	chr7:101711827..101713959-chr7:101721934..101723640,2	MCF-7	breast:
2	chr7:101705153..101708097-chr7:101711212..101713863,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs365397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs377587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405073	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411844	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413348	1.00[ASN][1000 genomes]
rs420709	1.00[ASN][1000 genomes]
rs421154	1.00[ASN][1000 genomes]
rs421430	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294126	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438908	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
2	chr7:101689800-101714800	Weak transcription	NHLF	lung
3	chr7:101690600-101713800	Weak transcription	Fetal Lung	lung
4	chr7:101690600-101713800	Weak transcription	Ovary	ovary
5	chr7:101700000-101713800	Weak transcription	Aorta	Aorta
6	chr7:101705600-101713800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:101705600-101714800	Weak transcription	Fetal Kidney	kidney
8	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
9	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:101707400-101714400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:101707400-101715800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:101707600-101713800	Weak transcription	HSMM	muscle
13	chr7:101707600-101714600	Weak transcription	Osteobl	bone
14	chr7:101707600-101716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:101707800-101713600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:101707800-101713800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:101708000-101713800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:101708000-101714800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:101708000-101715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:101708200-101713800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:101708200-101713800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:101708200-101714400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:101708200-101714600	Weak transcription	Colonic Mucosa	Colon
25	chr7:101708200-101714600	Weak transcription	Esophagus	oesophagus
26	chr7:101708200-101722000	Weak transcription	NH-A	brain
27	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
29	chr7:101708400-101713600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:101708400-101713800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:101708400-101713800	Strong transcription	Fetal Intestine Small	intestine
32	chr7:101708400-101714600	Weak transcription	Fetal Brain Female	brain
33	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:101708400-101720400	Weak transcription	HMEC	breast
35	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
36	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
37	chr7:101708400-101726000	Weak transcription	NHEK	skin
38	chr7:101708600-101713600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:101708600-101713800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:101708600-101713800	Weak transcription	K562	blood
41	chr7:101708600-101714600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:101708600-101714600	Weak transcription	A549	lung
43	chr7:101708800-101713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:101708800-101714600	Weak transcription	Brain Germinal Matrix	brain
45	chr7:101709000-101714000	Weak transcription	Right Ventricle	heart
46	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
47	chr7:101709600-101715200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr7:101709800-101713600	Weak transcription	Hela-S3	cervix
49	chr7:101710400-101713600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:101710400-101713800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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