Variant report

Variant	rs72633968
Chromosome Location	chr5:74753634-74753635
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	chr5:74753229..74754839-chr5:74755148..74758107,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10036682	0.88[EUR][1000 genomes]
rs10038945	0.88[EUR][1000 genomes]
rs10041470	0.90[EUR][1000 genomes]
rs10055011	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10059022	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10061689	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10067900	0.90[EUR][1000 genomes]
rs10074747	0.82[EUR][1000 genomes]
rs10076819	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10077427	0.88[EUR][1000 genomes]
rs10078671	0.88[EUR][1000 genomes]
rs10474437	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12173076	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13360099	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13361353	0.88[EUR][1000 genomes]
rs1469051	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553234	0.88[EUR][1000 genomes]
rs1820049	0.87[EUR][1000 genomes]
rs1909719	0.88[EUR][1000 genomes]
rs2287710	0.87[EUR][1000 genomes]
rs253410	0.82[ASN][1000 genomes]
rs28408106	0.90[EUR][1000 genomes]
rs28612248	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28668361	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28874007	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34339	0.82[ASN][1000 genomes]
rs34342	0.82[ASN][1000 genomes]
rs34343	0.82[ASN][1000 genomes]
rs3804231	0.90[EUR][1000 genomes]
rs4703671	0.88[EUR][1000 genomes]
rs4703675	0.88[EUR][1000 genomes]
rs4704213	0.90[EUR][1000 genomes]
rs4704229	0.86[EUR][1000 genomes]
rs56859362	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744544	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744545	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744636	0.88[EUR][1000 genomes]
rs5744667	0.85[EUR][1000 genomes]
rs5744704	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5744709	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5744712	0.87[EUR][1000 genomes]
rs57907925	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58519566	0.90[EUR][1000 genomes]
rs58841453	0.88[EUR][1000 genomes]
rs61303403	0.86[EUR][1000 genomes]
rs6891560	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633964	0.90[EUR][1000 genomes]
rs72633965	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72633966	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72633967	0.88[EUR][1000 genomes]
rs72633969	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633970	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633971	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633972	0.86[EUR][1000 genomes]
rs72633973	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72633974	0.88[EUR][1000 genomes]
rs72633975	0.88[EUR][1000 genomes]
rs72633976	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72633977	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7356633	0.90[EUR][1000 genomes]
rs7726478	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs904743	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9293652	0.90[EUR][1000 genomes]
rs9293654	0.82[EUR][1000 genomes]
rs9293655	0.86[EUR][1000 genomes]
rs979182	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74709600-74760200	Weak transcription	Gastric	stomach
4	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:74738600-74756600	Weak transcription	Fetal Kidney	kidney
10	chr5:74739600-74756200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:74741200-74760200	Weak transcription	Left Ventricle	heart
13	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:74742600-74764200	Weak transcription	HSMM	muscle
15	chr5:74743000-74754800	Weak transcription	Fetal Lung	lung
16	chr5:74743000-74757000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:74743000-74760000	Weak transcription	Lung	lung
18	chr5:74743000-74761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:74743000-74761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:74743200-74754800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:74743200-74756200	Weak transcription	A549	lung
24	chr5:74743200-74758000	Weak transcription	Fetal Stomach	stomach
25	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
26	chr5:74743600-74755400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:74743800-74754800	Weak transcription	Ovary	ovary
28	chr5:74743800-74761400	Weak transcription	Fetal Thymus	thymus
29	chr5:74743800-74761400	Weak transcription	Thymus	Thymus
30	chr5:74743800-74761800	Weak transcription	K562	blood
31	chr5:74744000-74759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:74744600-74756200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:74746200-74760000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:74746200-74760200	Weak transcription	Spleen	Spleen
35	chr5:74746200-74761000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:74746400-74754200	Weak transcription	Fetal Intestine Small	intestine
37	chr5:74746400-74759600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:74746600-74759400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:74746800-74756400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:74746800-74756400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:74746800-74756800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:74747200-74756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:74747200-74761200	Weak transcription	Primary T cells from cord blood	blood
44	chr5:74747600-74756600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:74748200-74756400	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:74748200-74756400	Weak transcription	Fetal Brain Female	brain
47	chr5:74748200-74761400	Weak transcription	Right Ventricle	heart
48	chr5:74748400-74759600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:74748600-74770400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:74748800-74761200	Weak transcription	Fetal Heart	heart

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