Variant report

Variant	rs277991
Chromosome Location	chr5:70919184-70919185
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70916502..70919682-chr5:70919779..70922694,4	K562	blood:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10057258	0.87[AMR][1000 genomes]
rs10079014	0.87[AMR][1000 genomes]
rs1017225	0.85[AMR][1000 genomes]
rs10942548	0.87[AMR][1000 genomes]
rs12187886	0.87[AMR][1000 genomes]
rs12652916	0.87[AMR][1000 genomes]
rs13182226	0.87[AMR][1000 genomes]
rs156756	0.89[AMR][1000 genomes]
rs157192	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157193	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs166758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs169406	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs175871	0.81[ASN][1000 genomes]
rs182191	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059196	0.87[AMR][1000 genomes]
rs276589	0.89[AMR][1000 genomes]
rs277927	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277935	0.81[AMR][1000 genomes]
rs277941	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs277946	0.87[AMR][1000 genomes]
rs277947	0.86[AMR][1000 genomes]
rs277951	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277953	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277956	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs277975	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs277977	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277982	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277984	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277989	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277992	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277994	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277998	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs279289	0.89[AMR][1000 genomes]
rs282357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs368462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761966	0.87[AMR][1000 genomes]
rs388918	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs411050	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs412766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs421128	0.85[AMR][1000 genomes]
rs457539	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs457889	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs458829	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs461690	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs461942	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs462534	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs464639	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs467880	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs467883	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs468010	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468796	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4703617	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703987	0.87[AMR][1000 genomes]
rs4704050	0.86[AMR][1000 genomes]
rs561139	0.87[AMR][1000 genomes]
rs617876	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67735897	0.86[AMR][1000 genomes]
rs6872978	0.85[AMR][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv532805	chr5:70916228-71020967	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70884800-70934800	Weak transcription	Fetal Brain Male	brain
2	chr5:70893600-70930200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:70895800-70937800	Weak transcription	Colonic Mucosa	Colon
4	chr5:70897000-70925800	Weak transcription	Right Ventricle	heart
5	chr5:70897200-70930000	Weak transcription	Psoas Muscle	Psoas
6	chr5:70897400-70921000	Weak transcription	Fetal Heart	heart
7	chr5:70897400-70933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:70897800-70944800	Weak transcription	Small Intestine	intestine
9	chr5:70898200-70944200	Weak transcription	Osteobl	bone
10	chr5:70898400-70935400	Weak transcription	NHDF-Ad	bronchial
11	chr5:70898400-70955000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:70898600-70922400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:70898600-70948400	Weak transcription	Brain Germinal Matrix	brain
14	chr5:70900000-70944800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:70900200-70925800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:70900200-70928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:70900200-70930800	Weak transcription	HMEC	breast
18	chr5:70900200-70945200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:70900400-70922800	Weak transcription	Fetal Kidney	kidney
20	chr5:70900400-70927000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:70900400-70927600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:70900400-70927800	Weak transcription	Brain Substantia Nigra	brain
23	chr5:70900400-70931000	Weak transcription	K562	blood
24	chr5:70900400-70933200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:70905800-70920200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:70906400-70919600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:70906600-70923400	Strong transcription	Primary T cells from cord blood	blood
28	chr5:70906600-70952400	Weak transcription	Stomach Mucosa	stomach
29	chr5:70906800-70923400	Strong transcription	Liver	Liver
30	chr5:70907200-70927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:70907200-70928200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:70907400-70932800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:70907600-70928000	Weak transcription	Fetal Lung	lung
34	chr5:70908800-70927200	Weak transcription	Thymus	Thymus
35	chr5:70909000-70938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:70909200-70931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:70911000-70920200	Strong transcription	Dnd41	blood
38	chr5:70911200-70928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:70912000-70919200	Weak transcription	HSMMtube	muscle
40	chr5:70912200-70931000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:70912400-70922800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:70912400-70927000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:70912400-70936600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:70912600-70927800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:70912600-70941800	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:70912600-70943800	Weak transcription	A549	lung
47	chr5:70912800-70922800	Weak transcription	HSMM	muscle
48	chr5:70912800-70927000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:70913000-70922400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:70913000-70927000	Weak transcription	Pancreas	Pancrea

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