Variant report

Variant	rs12538702
Chromosome Location	chr7:101704184-101704185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101462493..101465700-chr7:101703860..101705566,3	MCF-7	breast:
2	chr7:101698449..101701130-chr7:101703905..101706013,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10231704	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245459	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245816	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246310	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249739	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252737	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261132	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975663	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979916	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982462	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537930	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539349	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540846	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17410356	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495148	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495210	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401723	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28502241	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715744	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55704423	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55851631	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55974420	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58414903	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245174	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67737740	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959827	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73185880	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185883	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185884	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655773	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:101674200-101707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:101688400-101706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:101688600-101707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:101689400-101706400	Weak transcription	Stomach Mucosa	stomach
6	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
7	chr7:101689800-101714800	Weak transcription	NHLF	lung
8	chr7:101690000-101704600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:101690200-101705000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:101690400-101704600	Weak transcription	Spleen	Spleen
11	chr7:101690400-101704800	Weak transcription	Placenta	Placenta
12	chr7:101690600-101713800	Weak transcription	Fetal Lung	lung
13	chr7:101690600-101713800	Weak transcription	Ovary	ovary
14	chr7:101693400-101704600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:101694400-101705200	Weak transcription	Left Ventricle	heart
16	chr7:101694400-101707200	Weak transcription	Right Atrium	heart
17	chr7:101694600-101704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:101694800-101707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:101695000-101706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:101695000-101706400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:101696800-101706400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:101697400-101706400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:101697600-101711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:101697800-101709800	Weak transcription	Thymus	Thymus
25	chr7:101697800-101711800	Weak transcription	HepG2	liver
26	chr7:101698000-101712000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:101698200-101704800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:101699600-101704800	Weak transcription	Primary B cells from cord blood	blood
29	chr7:101699600-101704800	Weak transcription	Dnd41	blood
30	chr7:101699800-101705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:101699800-101705200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:101699800-101712000	Weak transcription	Primary T cells from cord blood	blood
33	chr7:101700000-101704600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:101700000-101705000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:101700000-101707200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:101700000-101713800	Weak transcription	Aorta	Aorta
37	chr7:101700200-101704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:101700200-101707000	Weak transcription	Fetal Intestine Large	intestine
39	chr7:101700600-101704400	Weak transcription	Fetal Intestine Small	intestine
40	chr7:101702400-101704800	Weak transcription	Right Ventricle	heart
41	chr7:101702400-101705200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:101702600-101704400	Weak transcription	GM12878-XiMat	blood
43	chr7:101702600-101705200	Weak transcription	A549	lung
44	chr7:101703000-101706200	Weak transcription	Fetal Stomach	stomach
45	chr7:101703400-101704800	Weak transcription	K562	blood
46	chr7:101703800-101707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:101703800-101713400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:101704000-101705200	Weak transcription	Fetal Heart	heart

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