Variant report

Variant	rs10473001
Chromosome Location	chr5:36229609-36229610
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36220234..36224903-chr5:36227628..36232004,4	K562	blood:
2	chr5:36220506..36223464-chr5:36227618..36229963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245711	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10051604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079844	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10079850	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10080095	0.92[ASN][1000 genomes]
rs10214173	0.92[ASN][1000 genomes]
rs10223062	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1035480	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10473002	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10805611	0.92[ASN][1000 genomes]
rs10805612	0.95[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs11747169	0.92[ASN][1000 genomes]
rs13360059	0.92[ASN][1000 genomes]
rs1345776	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1363843	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1363844	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1364017	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1423223	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1423224	0.95[CHB][hapmap];0.96[JPT][hapmap]
rs1423226	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs152365	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs152366	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1816101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862543	0.92[ASN][1000 genomes]
rs1862544	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2303163	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362978	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2362980	0.95[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs2363034	0.81[CHB][hapmap]
rs27733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33663	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34888491	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3849786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3860801	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3906394	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41445147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs430421	0.88[ASN][1000 genomes]
rs4869473	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4869474	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4869626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869634	0.92[ASN][1000 genomes]
rs4869635	0.95[CHB][hapmap];0.96[JPT][hapmap];0.90[ASN][1000 genomes]
rs4869636	0.92[ASN][1000 genomes]
rs6451262	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6451263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451265	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451269	0.95[CHB][hapmap];0.96[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6451270	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6863707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6866745	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6869599	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6870255	0.93[ASN][1000 genomes]
rs6873176	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6874389	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6881086	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6886098	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6891120	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6892199	0.95[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs6893107	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6895423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898215	0.91[ASN][1000 genomes]
rs7705209	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7705396	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7705858	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7705985	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7715317	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7720779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722251	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7724057	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7729152	0.83[ASN][1000 genomes]
rs878607	0.92[ASN][1000 genomes]
rs9292622	0.81[ASN][1000 genomes]
rs991032	0.87[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
2	chr5:36191800-36230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:36196600-36236600	Weak transcription	GM12878-XiMat	blood
4	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
6	chr5:36201200-36230200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:36213200-36230200	Weak transcription	Brain Germinal Matrix	brain
9	chr5:36213200-36237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:36215200-36236600	Weak transcription	Small Intestine	intestine
11	chr5:36215800-36237800	Weak transcription	HMEC	breast
12	chr5:36219600-36230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:36221000-36230200	Weak transcription	K562	blood
14	chr5:36221200-36230000	Weak transcription	HSMMtube	muscle
15	chr5:36221200-36230400	Weak transcription	Lung	lung
16	chr5:36221200-36238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:36221600-36230000	Weak transcription	Pancreas	Pancrea
18	chr5:36221600-36230200	Weak transcription	Gastric	stomach
19	chr5:36221600-36232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:36221600-36235600	Weak transcription	Fetal Kidney	kidney
21	chr5:36221600-36236200	Weak transcription	Fetal Intestine Small	intestine
22	chr5:36221600-36238600	Weak transcription	Fetal Stomach	stomach
23	chr5:36221600-36239800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:36223000-36230600	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:36224200-36229800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:36225200-36230400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:36225200-36230400	Weak transcription	Brain Substantia Nigra	brain
28	chr5:36225200-36237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:36225400-36230400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:36225400-36237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:36225400-36237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:36225600-36230000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:36225600-36230400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:36225600-36239800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:36225800-36230000	Weak transcription	Aorta	Aorta
36	chr5:36225800-36230200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:36225800-36230200	Weak transcription	Left Ventricle	heart
38	chr5:36225800-36237800	Weak transcription	Fetal Lung	lung
39	chr5:36226000-36230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:36226000-36230200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:36226000-36233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:36226000-36236600	Weak transcription	Fetal Intestine Large	intestine
43	chr5:36226000-36237000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:36226000-36237200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:36226000-36239800	Weak transcription	Fetal Brain Female	brain
46	chr5:36226000-36240400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:36226000-36240400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:36226200-36231000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:36226200-36233600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:36226200-36237000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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