Variant report

Variant	rs2245966
Chromosome Location	chr7:50700650-50700651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50535443..50536367-chr7:50700303..50701436,9	MCF-7	breast:
2	chr7:50535602..50536304-chr7:50700570..50701281,2	K562	blood:
3	chr7:50699706..50701584-chr7:50708525..50710076,2	K562	blood:
4	chr7:50697685..50701045-chr7:50715068..50717759,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2108348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108353	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158919	0.92[AFR][1000 genomes]
rs2190495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237442	1.00[CHB][hapmap]
rs2237443	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237444	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237459	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237471	0.87[CHB][hapmap]
rs2244347	0.86[CHB][hapmap]
rs2262464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2262465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465529	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529383	0.91[AFR][1000 genomes]
rs2529384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529388	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529390	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529391	0.91[AFR][1000 genomes]
rs2529427	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2715113	0.88[AFR][1000 genomes]
rs2715114	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947757	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
2	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:50685200-50700800	Weak transcription	Osteobl	bone
4	chr7:50693600-50700800	Weak transcription	NHDF-Ad	bronchial
5	chr7:50693600-50705400	Weak transcription	NH-A	brain
6	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
7	chr7:50694600-50707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:50694600-50708400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:50694800-50700800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:50694800-50701000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:50695000-50700800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:50695000-50701000	Enhancers	Left Ventricle	heart
13	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
14	chr7:50695600-50716000	Weak transcription	Fetal Stomach	stomach
15	chr7:50695800-50701000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:50696800-50700800	Enhancers	Right Atrium	heart
17	chr7:50697000-50700800	Enhancers	Psoas Muscle	Psoas
18	chr7:50697600-50716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:50697800-50716800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:50698200-50708800	Weak transcription	HSMMtube	muscle
21	chr7:50698600-50701000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:50698800-50700800	Enhancers	Brain Substantia Nigra	brain
23	chr7:50698800-50700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:50698800-50700800	Enhancers	Spleen	Spleen
25	chr7:50698800-50701000	Enhancers	Right Ventricle	heart
26	chr7:50699000-50701200	Enhancers	Liver	Liver
27	chr7:50699200-50701000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:50699200-50701000	Enhancers	Small Intestine	intestine
29	chr7:50699400-50700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:50699400-50700800	Enhancers	Fetal Intestine Small	intestine
31	chr7:50699400-50700800	Enhancers	Lung	lung
32	chr7:50699400-50701000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:50699400-50701000	Enhancers	Duodenum Mucosa	Duodenum
34	chr7:50699400-50701200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:50699400-50701200	Enhancers	Stomach Mucosa	stomach
36	chr7:50699600-50700800	Enhancers	Colonic Mucosa	Colon
37	chr7:50699600-50700800	Enhancers	Fetal Intestine Large	intestine
38	chr7:50699600-50701200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:50699600-50702200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:50699600-50707800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:50699600-50720400	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:50699800-50701000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr7:50700000-50700800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:50700000-50701000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:50700000-50701000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:50700000-50701000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:50700000-50701000	Enhancers	Placenta	Placenta
48	chr7:50700000-50701200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:50700200-50700800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:50700200-50701200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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