Variant report

Variant	rs56079671
Chromosome Location	chr7:139466379-139466380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139462557..139464213-chr7:139466363..139468514,2	MCF-7	breast:
2	chr7:139465555..139467223-chr7:139473654..139475179,2	MCF-7	breast:
3	chr7:139465353..139468233-chr7:139701916..139703718,2	K562	blood:
4	chr7:139466166..139468375-chr7:139473040..139475518,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1015121	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224408	0.81[EUR][1000 genomes]
rs10230692	0.81[EUR][1000 genomes]
rs10254826	0.85[EUR][1000 genomes]
rs10268753	0.81[EUR][1000 genomes]
rs10278124	0.81[EUR][1000 genomes]
rs1106768	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155449	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374779	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12374780	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177103	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177358	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177953	0.86[AMR][1000 genomes]
rs17262390	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262662	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262676	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074826	0.81[EUR][1000 genomes]
rs4074827	0.81[EUR][1000 genomes]
rs55826011	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56840127	0.84[EUR][1000 genomes]
rs61054086	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967634	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158611	0.85[EUR][1000 genomes]
rs73158613	0.85[EUR][1000 genomes]
rs73158614	0.85[EUR][1000 genomes]
rs73158616	0.84[EUR][1000 genomes]
rs73735624	0.80[ASN][1000 genomes]
rs740818	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787807	0.85[EUR][1000 genomes]
rs7793114	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798740	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139432800-139469800	Weak transcription	Hela-S3	cervix
2	chr7:139438400-139467000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:139440600-139474600	Weak transcription	Fetal Brain Male	brain
4	chr7:139446600-139475800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:139449200-139466600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:139453200-139466800	Weak transcription	Thymus	Thymus
9	chr7:139453600-139467600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:139454000-139467600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:139454200-139471000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:139454200-139474000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:139455000-139466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:139455000-139466800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:139455000-139475000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:139455200-139473400	Weak transcription	Fetal Brain Female	brain
17	chr7:139455600-139466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:139458200-139471400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:139459200-139466600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:139459600-139474400	Weak transcription	Fetal Intestine Large	intestine
21	chr7:139460600-139466800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr7:139461600-139466400	Strong transcription	HepG2	liver
23	chr7:139461600-139471200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:139463000-139467800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:139463000-139469800	Weak transcription	A549	lung
26	chr7:139463200-139466800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:139463200-139467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:139463200-139467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:139463200-139467400	Weak transcription	Fetal Lung	lung
30	chr7:139463200-139467600	Weak transcription	Colonic Mucosa	Colon
31	chr7:139463200-139467600	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:139463200-139467600	Weak transcription	Placenta	Placenta
33	chr7:139463200-139468600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:139463200-139469200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:139463200-139472000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:139463400-139466600	Weak transcription	Stomach Mucosa	stomach
37	chr7:139463400-139467000	Weak transcription	Aorta	Aorta
38	chr7:139463400-139467600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:139463400-139467600	Weak transcription	Spleen	Spleen
40	chr7:139463600-139466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:139463600-139466800	Weak transcription	Small Intestine	intestine
42	chr7:139463600-139467000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:139463600-139467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:139463600-139467600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:139463600-139467600	Weak transcription	Esophagus	oesophagus
46	chr7:139463600-139468400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:139463600-139475000	Weak transcription	Ovary	ovary
48	chr7:139463800-139466400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:139463800-139466600	Weak transcription	Fetal Thymus	thymus
50	chr7:139463800-139467200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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