Variant report

Variant	rs147295
Chromosome Location	chr5:95219261-95219262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95218349..95221486-chr5:95224324..95227675,3	K562	blood:
2	chr5:95195726..95197557-chr5:95217923..95219650,2	MCF-7	breast:
3	chr5:95218170..95220119-chr5:95292473..95294131,2	MCF-7	breast:
4	chr5:95211012..95214579-chr5:95216579..95219270,4	K562	blood:

Variant related genes	Relation type
ENSG00000250362	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035477	0.85[CHB][hapmap];0.82[CHD][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10052503	0.84[YRI][hapmap]
rs10069748	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10070197	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1043381	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1057963	0.83[EUR][1000 genomes]
rs1057964	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11135441	0.85[TSI][hapmap]
rs11135442	0.88[ASW][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11738768	0.83[EUR][1000 genomes]
rs11739652	0.83[EUR][1000 genomes]
rs11741563	0.82[EUR][1000 genomes]
rs11741590	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11744881	0.83[ASW][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs13361341	0.82[EUR][1000 genomes]
rs13361837	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1423268	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1423269	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs1458018	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs1458019	0.81[EUR][1000 genomes]
rs154460	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17085231	0.85[CHB][hapmap];0.82[CHD][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17085249	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs17085266	0.82[EUR][1000 genomes]
rs1841010	0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs2042340	0.83[EUR][1000 genomes]
rs2270554	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs2348984	0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2546191	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2547997	0.82[EUR][1000 genomes]
rs2548594	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes]
rs2829	0.81[EUR][1000 genomes]
rs3777178	0.82[YRI][hapmap]
rs3777184	0.81[EUR][1000 genomes]
rs3777185	0.83[ASW][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs3777188	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs3777189	0.81[EUR][1000 genomes]
rs3777190	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs3777192	0.81[EUR][1000 genomes]
rs3777193	0.82[EUR][1000 genomes]
rs3777194	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs3777196	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3777197	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3777200	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs3777201	0.83[EUR][1000 genomes]
rs3777202	0.83[EUR][1000 genomes]
rs3777203	0.83[EUR][1000 genomes]
rs3777204	0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3777208	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3815768	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs4642392	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56156268	0.82[EUR][1000 genomes]
rs56219066	0.83[EUR][1000 genomes]
rs6556893	0.85[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6877329	0.82[EUR][1000 genomes]
rs6879652	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6885567	0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs6889029	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs6890954	0.85[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7700895	0.81[YRI][hapmap]
rs7702674	0.83[EUR][1000 genomes]
rs7716691	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs889302	0.92[YRI][hapmap]
rs9314162	0.81[EUR][1000 genomes]
rs967546	0.83[EUR][1000 genomes]
rs9986236	0.80[EUR][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95210200-95220000	Weak transcription	Right Ventricle	heart
2	chr5:95210600-95221800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:95212000-95224000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:95212400-95223800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:95212600-95219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
9	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:95214600-95222000	Weak transcription	Left Ventricle	heart
12	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:95215200-95223600	Weak transcription	A549	lung
17	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:95215400-95219600	Weak transcription	Fetal Intestine Small	intestine
19	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:95216200-95221600	Enhancers	HepG2	liver
23	chr5:95216200-95222000	Weak transcription	Fetal Thymus	thymus
24	chr5:95216600-95220200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:95216600-95222000	Weak transcription	Fetal Intestine Large	intestine
26	chr5:95216600-95225800	Weak transcription	Colonic Mucosa	Colon
27	chr5:95216800-95223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:95217000-95223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:95217200-95219400	Enhancers	Liver	Liver
30	chr5:95217800-95225600	Weak transcription	Lung	lung
31	chr5:95217800-95230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:95218000-95220800	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr5:95218000-95221000	Weak transcription	NH-A	brain
34	chr5:95218000-95222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:95218000-95225400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:95218000-95225800	Weak transcription	Aorta	Aorta
37	chr5:95218000-95226200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:95218000-95231000	Weak transcription	Right Atrium	heart
39	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
40	chr5:95218200-95219400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:95218200-95219400	Weak transcription	HSMMtube	muscle
42	chr5:95218200-95221800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:95218200-95224400	Weak transcription	Brain Anterior Caudate	brain
44	chr5:95218200-95224800	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
46	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:95218400-95219800	Weak transcription	NHLF	lung
48	chr5:95218600-95219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:95218800-95219600	Enhancers	Gastric	stomach
50	chr5:95218800-95220000	Strong transcription	HSMM	muscle

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