Variant report

Variant	rs10075139
Chromosome Location	chr5:74725609-74725610
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	chr5:74717369..74719270-chr5:74723978..74725689,2	K562	blood:
2	chr5:74722161..74724280-chr5:74725505..74728463,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10038723	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10043621	0.85[EUR][1000 genomes]
rs10044053	0.89[EUR][1000 genomes]
rs10053643	0.81[EUR][1000 genomes]
rs10060260	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10067641	0.91[EUR][1000 genomes]
rs10070207	0.80[ASN][1000 genomes]
rs10434644	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10462517	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10474434	0.81[EUR][1000 genomes]
rs10474436	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1051795	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs10942739	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11957913	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12234032	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13354407	0.90[EUR][1000 genomes]
rs1427924	0.91[EUR][1000 genomes]
rs17238484	0.81[EUR][1000 genomes]
rs17739580	0.94[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1863934	0.93[EUR][1000 genomes]
rs1863935	0.93[EUR][1000 genomes]
rs1995267	0.82[EUR][1000 genomes]
rs2287711	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs28609217	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878519	0.93[EUR][1000 genomes]
rs2878520	0.92[EUR][1000 genomes]
rs3213801	0.94[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs3761742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761743	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3846666	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3931914	0.95[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap]
rs4045166	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs4385188	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4440336	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4703670	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4703674	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs4704214	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4704224	0.82[EUR][1000 genomes]
rs4704228	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57149337	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57312935	0.90[EUR][1000 genomes]
rs5744533	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5744555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744575	0.90[EUR][1000 genomes]
rs5744598	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs5744601	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs5744621	0.89[EUR][1000 genomes]
rs5744703	0.82[EUR][1000 genomes]
rs59506842	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61430233	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6453134	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67969809	0.93[EUR][1000 genomes]
rs6861279	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs6863398	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872314	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874781	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6886841	0.81[EUR][1000 genomes]
rs6891949	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698912	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73120833	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7356637	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7445415	0.87[EUR][1000 genomes]
rs767676	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs7700468	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7701925	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs7706857	0.91[EUR][1000 genomes]
rs7709282	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717505	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs7723531	0.91[EUR][1000 genomes]
rs7737959	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs924452	0.91[EUR][1000 genomes]
rs9293656	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332464	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs9885386	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
4	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
6	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
7	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
8	chr5:74699600-74731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:74706000-74731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:74708600-74727800	Weak transcription	NHLF	lung
13	chr5:74709400-74726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:74709600-74726600	Weak transcription	Pancreas	Pancrea
15	chr5:74709600-74732000	Weak transcription	Spleen	Spleen
16	chr5:74709600-74760200	Weak transcription	Gastric	stomach
17	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:74714400-74731600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:74718600-74726600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:74719000-74726600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:74719000-74731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:74721000-74731400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:74721000-74731600	Weak transcription	Fetal Stomach	stomach
25	chr5:74721200-74731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:74721400-74726800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:74721400-74729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:74721400-74729800	Weak transcription	NHDF-Ad	bronchial
29	chr5:74721400-74730000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:74721400-74731200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:74721400-74731200	Weak transcription	Ovary	ovary
32	chr5:74721400-74731400	Weak transcription	Left Ventricle	heart
33	chr5:74721400-74731400	Weak transcription	Lung	lung
34	chr5:74721400-74733400	Weak transcription	Fetal Intestine Large	intestine
35	chr5:74721400-74733400	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:74721400-74733400	Weak transcription	Small Intestine	intestine
37	chr5:74721400-74733600	Weak transcription	Right Ventricle	heart
38	chr5:74721400-74734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
40	chr5:74721600-74725800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:74721600-74726200	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:74721600-74726800	Weak transcription	Brain Angular Gyrus	brain
43	chr5:74721600-74731200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:74721600-74731200	Weak transcription	HSMM	muscle
45	chr5:74721600-74736000	Weak transcription	Primary T cells from cord blood	blood
46	chr5:74721600-74741400	Weak transcription	Fetal Lung	lung
47	chr5:74721600-74742600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:74721800-74727400	Weak transcription	Fetal Kidney	kidney
49	chr5:74721800-74729200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:74721800-74731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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