Variant report

Variant	rs17495148
Chromosome Location	chr7:101694978-101694979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101688104..101690930-chr7:101693641..101697108,3	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10231704	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243429	1.00[CHB][hapmap]
rs10245459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245816	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246310	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249739	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252737	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259603	1.00[CHB][hapmap]
rs10261132	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271376	1.00[CHB][hapmap]
rs10277680	1.00[CHB][hapmap]
rs10953357	1.00[CHB][hapmap]
rs11769397	1.00[CHB][hapmap]
rs11975663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979916	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537526	1.00[CHB][hapmap]
rs12537930	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538286	1.00[CHB][hapmap]
rs12538702	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539349	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539846	1.00[CHB][hapmap]
rs12540846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17408612	1.00[CHB][hapmap]
rs17408640	1.00[CHB][hapmap]
rs17409879	1.00[CHB][hapmap]
rs17410356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17487076	1.00[CHB][hapmap]
rs17487672	1.00[CHB][hapmap]
rs17494372	0.91[YRI][hapmap]
rs17495210	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496657	1.00[CHB][hapmap]
rs28401723	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28502241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55704423	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55851631	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55974420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58414903	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465843	1.00[CHB][hapmap]
rs67245174	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67737740	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959475	1.00[CHB][hapmap]
rs6959827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6973312	1.00[CHB][hapmap]
rs73185880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185883	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776498	1.00[CHB][hapmap]
rs7780631	1.00[CHB][hapmap]
rs7797764	1.00[CHB][hapmap]
rs7798358	1.00[CHB][hapmap]
rs7805379	1.00[CHB][hapmap]
rs9655773	1.00[AFR][1000 genomes];1.00[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:101672200-101697000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:101672400-101697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:101674200-101707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:101674400-101696800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:101674400-101697000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:101679000-101695200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:101684200-101697400	Weak transcription	Liver	Liver
10	chr7:101685600-101697200	Weak transcription	HepG2	liver
11	chr7:101688400-101697000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:101688400-101706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:101688600-101707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:101689000-101695200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:101689400-101697400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:101689400-101706400	Weak transcription	Stomach Mucosa	stomach
17	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
18	chr7:101689600-101696600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:101689800-101714800	Weak transcription	NHLF	lung
20	chr7:101690000-101704600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:101690200-101696600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:101690200-101705000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:101690400-101704600	Weak transcription	Spleen	Spleen
24	chr7:101690400-101704800	Weak transcription	Placenta	Placenta
25	chr7:101690600-101713800	Weak transcription	Fetal Lung	lung
26	chr7:101690600-101713800	Weak transcription	Ovary	ovary
27	chr7:101692800-101695800	Weak transcription	Dnd41	blood
28	chr7:101693000-101696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:101693200-101696800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:101693200-101696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:101693200-101696800	Weak transcription	Fetal Intestine Small	intestine
32	chr7:101693400-101695800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:101693400-101696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:101693400-101697200	Weak transcription	Thymus	Thymus
35	chr7:101693400-101697600	Weak transcription	Fetal Stomach	stomach
36	chr7:101693400-101704600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:101693600-101695000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:101693600-101697200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:101693800-101697600	Weak transcription	Fetal Intestine Large	intestine
40	chr7:101694000-101695000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:101694000-101695000	Enhancers	Fetal Thymus	thymus
42	chr7:101694000-101695000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:101694000-101695200	Enhancers	NHEK	skin
44	chr7:101694000-101695800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:101694200-101695000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:101694200-101695000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:101694200-101695000	Enhancers	HSMM	muscle
48	chr7:101694400-101698800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:101694400-101705200	Weak transcription	Left Ventricle	heart
50	chr7:101694400-101707200	Weak transcription	Right Atrium	heart

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