Variant report

Variant	rs438908
Chromosome Location	chr7:101695248-101695249
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	chr7:101688104..101690930-chr7:101693641..101697108,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs365397	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370760	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376183	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs377587	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377612	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379347	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405073	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411844	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.96[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	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294126	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729771	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.93[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:47 , 50 per page) page: 1

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	chr7:101684200-101697400	Weak transcription	Liver	Liver
9	chr7:101685600-101697200	Weak transcription	HepG2	liver
10	chr7:101688400-101697000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:101688400-101706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:101688600-101707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:101689400-101697400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:101689400-101706400	Weak transcription	Stomach Mucosa	stomach
15	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
16	chr7:101689600-101696600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:101689800-101714800	Weak transcription	NHLF	lung
18	chr7:101690000-101704600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:101690200-101696600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:101690200-101705000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:101690400-101704600	Weak transcription	Spleen	Spleen
22	chr7:101690400-101704800	Weak transcription	Placenta	Placenta
23	chr7:101690600-101713800	Weak transcription	Fetal Lung	lung
24	chr7:101690600-101713800	Weak transcription	Ovary	ovary
25	chr7:101692800-101695800	Weak transcription	Dnd41	blood
26	chr7:101693000-101696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:101693200-101696800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:101693200-101696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:101693200-101696800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:101693400-101695800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:101693400-101696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:101693400-101697200	Weak transcription	Thymus	Thymus
33	chr7:101693400-101697600	Weak transcription	Fetal Stomach	stomach
34	chr7:101693400-101704600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:101693600-101697200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:101693800-101697600	Weak transcription	Fetal Intestine Large	intestine
37	chr7:101694000-101695800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:101694400-101698800	Weak transcription	Primary T cells from cord blood	blood
39	chr7:101694400-101705200	Weak transcription	Left Ventricle	heart
40	chr7:101694400-101707200	Weak transcription	Right Atrium	heart
41	chr7:101694600-101704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:101694800-101707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:101695000-101696000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:101695000-101697200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:101695000-101706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:101695000-101706400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:101695200-101696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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