Variant report

Variant	rs4640773
Chromosome Location	chr5:74788403-74788404
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	chr5:74786766..74788653-chr5:74965428..74967574,2	K562	blood:
2	chr5:74775852..74778323-chr5:74787473..74789396,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11948350	0.83[EUR][1000 genomes]
rs11948442	0.83[EUR][1000 genomes]
rs11952534	0.83[EUR][1000 genomes]
rs11953173	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11953883	0.83[EUR][1000 genomes]
rs11954651	0.82[EUR][1000 genomes]
rs11955568	0.83[EUR][1000 genomes]
rs11955819	0.94[EUR][1000 genomes]
rs11956111	0.83[EUR][1000 genomes]
rs11956112	0.83[EUR][1000 genomes]
rs11956755	0.83[EUR][1000 genomes]
rs11960741	0.83[EUR][1000 genomes]
rs11960747	0.83[EUR][1000 genomes]
rs11960771	0.83[EUR][1000 genomes]
rs1422441	0.83[EUR][1000 genomes]
rs1489	0.88[EUR][1000 genomes]
rs16872523	0.82[EUR][1000 genomes]
rs16872590	0.88[EUR][1000 genomes]
rs16872661	0.88[EUR][1000 genomes]
rs16872677	0.83[EUR][1000 genomes]
rs16872683	0.83[EUR][1000 genomes]
rs16872693	0.83[EUR][1000 genomes]
rs17238540	0.82[EUR][1000 genomes]
rs1991450	0.83[EUR][1000 genomes]
rs2112348	0.83[EUR][1000 genomes]
rs2112350	0.83[EUR][1000 genomes]
rs56832737	0.83[EUR][1000 genomes]
rs57414757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5744617	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5744720	0.88[EUR][1000 genomes]
rs57531042	0.83[EUR][1000 genomes]
rs57670471	0.83[EUR][1000 genomes]
rs58216239	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59427628	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60385047	0.83[EUR][1000 genomes]
rs60609097	0.83[EUR][1000 genomes]
rs60630022	0.82[EUR][1000 genomes]
rs61165632	0.82[EUR][1000 genomes]
rs61516153	0.88[EUR][1000 genomes]
rs6865606	0.94[EUR][1000 genomes]
rs6866607	0.82[EUR][1000 genomes]
rs6870090	0.83[EUR][1000 genomes]
rs6882452	0.83[EUR][1000 genomes]
rs6894068	0.83[EUR][1000 genomes]
rs6895148	0.83[EUR][1000 genomes]
rs6898308	0.82[EUR][1000 genomes]
rs73118846	0.82[EUR][1000 genomes]
rs73118860	0.82[EUR][1000 genomes]
rs73120804	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120805	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120807	0.94[EUR][1000 genomes]
rs73120811	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120822	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120848	0.88[EUR][1000 genomes]
rs73120849	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73120850	0.88[EUR][1000 genomes]
rs73122744	0.88[EUR][1000 genomes]
rs73122755	0.88[EUR][1000 genomes]
rs73122770	0.83[EUR][1000 genomes]
rs73122771	0.83[EUR][1000 genomes]
rs73122772	0.83[EUR][1000 genomes]
rs73124734	0.83[EUR][1000 genomes]
rs73124747	0.83[EUR][1000 genomes]
rs73124750	0.83[EUR][1000 genomes]
rs7722940	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7724771	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:74760400-74792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:74762200-74805800	Weak transcription	Pancreas	Pancrea
4	chr5:74764800-74798600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:74765200-74795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:74765200-74804600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:74769200-74794000	Weak transcription	Fetal Thymus	thymus
8	chr5:74769400-74794800	Weak transcription	Stomach Mucosa	stomach
9	chr5:74770400-74805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:74771800-74794200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:74775200-74804000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:74777000-74794200	Weak transcription	Dnd41	blood
13	chr5:74777400-74797800	Weak transcription	Colonic Mucosa	Colon
14	chr5:74778600-74794200	Weak transcription	Right Ventricle	heart
15	chr5:74778600-74796800	Weak transcription	Esophagus	oesophagus
16	chr5:74778600-74806400	Weak transcription	Gastric	stomach
17	chr5:74778800-74805400	Weak transcription	HMEC	breast
18	chr5:74779000-74804200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:74782200-74795400	Weak transcription	HSMM	muscle
20	chr5:74782600-74805400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:74783000-74803000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:74783600-74793800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:74784000-74795400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:74784000-74803200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:74785200-74792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:74785200-74803800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:74785400-74794400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:74785400-74799000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:74785800-74788600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:74785800-74788600	ZNF genes & repeats	GM12878-XiMat	blood
31	chr5:74785800-74805200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:74785800-74806400	Weak transcription	Spleen	Spleen
33	chr5:74786000-74788800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:74786000-74790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:74786000-74794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:74786000-74794200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:74786000-74801200	Weak transcription	A549	lung
38	chr5:74786000-74804600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:74786200-74794200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:74786200-74794200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:74786200-74800000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:74786200-74800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:74786200-74804000	Weak transcription	Brain Anterior Caudate	brain
44	chr5:74786200-74804400	Weak transcription	Brain Angular Gyrus	brain
45	chr5:74786200-74805600	Weak transcription	Aorta	Aorta
46	chr5:74786400-74805200	Weak transcription	HUVEC	blood vessel
47	chr5:74786400-74805400	Weak transcription	Brain Substantia Nigra	brain
48	chr5:74786400-74805400	Weak transcription	NH-A	brain
49	chr5:74786600-74788600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:74786600-74788600	Strong transcription	Primary hematopoietic stem cells	blood

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