Variant report

Variant	rs73116888
Chromosome Location	chr7:50740960-50740961
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	chr7:50739761..50742515-chr7:50760323..50762831,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152083	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546879	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547986	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237482	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes]
rs4947816	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes]
rs56037477	0.80[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56200772	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes]
rs58198279	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes]
rs60767324	0.88[EUR][1000 genomes]
rs61250449	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73116822	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116898	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118841	0.90[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122790	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124705	0.90[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757771	0.86[ASN][1000 genomes]
rs757998	0.96[EUR][1000 genomes];0.97[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
7	chr7:50729800-50741600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
9	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:50731000-50741400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:50733200-50743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:50733600-50741800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:50733800-50742600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:50734200-50743400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:50734400-50742400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:50735400-50743000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:50735400-50744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:50735600-50742400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:50735800-50741200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:50735800-50743200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:50735800-50745000	Weak transcription	Stomach Mucosa	stomach
26	chr7:50736000-50742800	Strong transcription	Fetal Stomach	stomach
27	chr7:50736000-50743200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:50736000-50743400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:50736000-50743600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:50736200-50741400	Weak transcription	NHLF	lung
31	chr7:50736200-50742600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:50736200-50743200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:50736400-50741200	Weak transcription	Placenta	Placenta
34	chr7:50736400-50742400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:50736600-50742200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:50736600-50742200	Strong transcription	HSMMtube	muscle
37	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
38	chr7:50736800-50741400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:50736800-50741800	Weak transcription	Hela-S3	cervix
40	chr7:50737000-50742800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:50737000-50743000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:50737200-50742600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:50737200-50742800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:50737600-50742200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:50737600-50742200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:50738000-50741200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:50738000-50741200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:50738000-50741200	Weak transcription	Fetal Lung	lung
49	chr7:50738000-50741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:50738000-50741400	Weak transcription	Fetal Muscle Trunk	muscle

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