Variant report

Variant	rs4703670
Chromosome Location	chr5:74660356-74660357
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	chr5:74653986..74657111-chr5:74658520..74660531,3	K562	blood:
2	chr5:74649780..74652799-chr5:74656910..74662122,4	K562	blood:

Variant related genes	Relation type
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10038723	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10043621	0.81[EUR][1000 genomes]
rs10044053	0.85[EUR][1000 genomes]
rs10053643	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10075139	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10434644	0.92[ASN][1000 genomes]
rs10462517	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473972	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10474433	0.81[JPT][hapmap]
rs10474434	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10474436	0.92[ASN][1000 genomes]
rs10942739	0.87[ASN][1000 genomes]
rs11957913	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12234032	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13354407	0.86[EUR][1000 genomes]
rs17238484	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28609217	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2878418	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28851300	0.81[EUR][1000 genomes]
rs3213801	0.83[EUR][1000 genomes]
rs3761742	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761743	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3846665	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846666	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3931914	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4385188	0.92[ASN][1000 genomes]
rs4440336	0.88[ASN][1000 genomes]
rs4704214	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704228	0.84[EUR][1000 genomes]
rs57149337	0.83[ASN][1000 genomes]
rs57312935	0.86[EUR][1000 genomes]
rs5744533	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744555	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5744575	0.86[EUR][1000 genomes]
rs5744598	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs5744601	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs5744621	0.85[EUR][1000 genomes]
rs59506842	0.85[EUR][1000 genomes]
rs61430233	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6453134	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6863398	0.82[ASN][1000 genomes]
rs6872314	0.92[ASN][1000 genomes]
rs6874781	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6891949	0.82[ASN][1000 genomes]
rs698912	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73120833	0.83[ASN][1000 genomes]
rs7356637	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7445415	0.83[EUR][1000 genomes]
rs7700468	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7701925	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7709282	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7732854	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7737959	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9885386	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74638200-74660400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:74638200-74660400	Strong transcription	Fetal Thymus	thymus
3	chr5:74638600-74660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:74639400-74660400	Strong transcription	HMEC	breast
5	chr5:74650400-74660400	Strong transcription	Primary T cells from cord blood	blood
6	chr5:74656400-74665400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:74656400-74669800	Weak transcription	Ovary	ovary
8	chr5:74656400-74670400	Weak transcription	Right Ventricle	heart
9	chr5:74656400-74673600	Weak transcription	Psoas Muscle	Psoas
10	chr5:74656400-74673600	Weak transcription	Small Intestine	intestine
11	chr5:74656400-74673600	Weak transcription	Spleen	Spleen
12	chr5:74656400-74674000	Weak transcription	Brain Germinal Matrix	brain
13	chr5:74656400-74674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:74656400-74674800	Weak transcription	Brain Substantia Nigra	brain
15	chr5:74656400-74676800	Weak transcription	Fetal Brain Male	brain
16	chr5:74656400-74687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:74656600-74668400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:74656600-74670600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:74656600-74675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:74656600-74675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:74656600-74675800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:74656600-74676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:74656600-74677200	Weak transcription	Aorta	Aorta
25	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
26	chr5:74656800-74669600	Weak transcription	Hela-S3	cervix
27	chr5:74656800-74670200	Weak transcription	HepG2	liver
28	chr5:74656800-74670400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:74656800-74676200	Weak transcription	Colonic Mucosa	Colon
30	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:74657400-74674800	Weak transcription	A549	lung
32	chr5:74657600-74673600	Weak transcription	Lung	lung
33	chr5:74657800-74668600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:74657800-74668800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:74657800-74669400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:74658000-74674800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:74658400-74668600	Weak transcription	Adipose Nuclei	Adipose
39	chr5:74658400-74673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:74658600-74660400	Strong transcription	Thymus	Thymus
41	chr5:74658600-74661400	Weak transcription	K562	blood
42	chr5:74658600-74664000	Weak transcription	Osteobl	bone
43	chr5:74658600-74664200	Weak transcription	NH-A	brain
44	chr5:74658600-74669600	Weak transcription	Brain Anterior Caudate	brain
45	chr5:74658600-74673200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:74658600-74674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:74658600-74674800	Weak transcription	Fetal Kidney	kidney
48	chr5:74658800-74661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:74658800-74664200	Weak transcription	NHEK	skin
50	chr5:74658800-74665400	Weak transcription	Primary B cells from cord blood	blood

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