Variant report

Variant	rs2907948
Chromosome Location	chr7:150638484-150638485
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	chr7:150638034..150640570-chr7:150647564..150649196,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10236214	1.00[CHB][hapmap]
rs10378	1.00[JPT][hapmap]
rs1547958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197782	1.00[JPT][hapmap]
rs1805123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968863	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775896	1.00[JPT][hapmap]
rs4725386	0.85[EUR][1000 genomes]
rs4725984	1.00[CHB][hapmap]
rs56282717	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6947240	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
8	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 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	chr7:150634400-150640400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:150634400-150643800	Enhancers	HMEC	breast
3	chr7:150634800-150643600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:150635000-150644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:150635600-150639200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:150635600-150642400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:150635600-150642600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:150635600-150648000	Weak transcription	Ovary	ovary
9	chr7:150635800-150638600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:150635800-150638800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:150635800-150639000	Weak transcription	Right Atrium	heart
12	chr7:150635800-150639000	Weak transcription	Right Ventricle	heart
13	chr7:150635800-150639200	Weak transcription	Spleen	Spleen
14	chr7:150636000-150638600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:150636000-150638600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:150636000-150638600	Weak transcription	Esophagus	oesophagus
17	chr7:150636000-150638800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:150636000-150639200	Weak transcription	Primary T cells from cord blood	blood
19	chr7:150636000-150639200	Weak transcription	Fetal Lung	lung
20	chr7:150636400-150638600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:150636400-150638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:150636400-150638600	Weak transcription	NHEK	skin
23	chr7:150636600-150638600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:150636600-150638600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:150636600-150638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:150636600-150638600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:150636800-150638600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:150636800-150638800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:150636800-150639000	Weak transcription	Fetal Brain Male	brain
30	chr7:150636800-150639000	Weak transcription	K562	blood
31	chr7:150637000-150638600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:150637000-150638600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:150637000-150639000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:150637000-150642000	Weak transcription	Fetal Brain Female	brain
35	chr7:150637200-150641200	Enhancers	Fetal Heart	heart
36	chr7:150637800-150639000	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:150637800-150639800	Enhancers	Rectal Smooth Muscle	rectum
38	chr7:150637800-150640400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:150637800-150642400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:150637800-150652400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:150638000-150639600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr7:150638000-150641600	Weak transcription	Fetal Intestine Small	intestine
43	chr7:150638000-150642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:150638200-150638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:150638400-150639800	Bivalent Enhancer	Placenta	Placenta
46	chr7:150638400-150640000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:150638400-150640200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:150638400-150640600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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