Variant report

Variant	rs2190797
Chromosome Location	chr5:127352875-127352876
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	chr5:127348432..127350036-chr5:127352208..127354084,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10045113	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10045307	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10060181	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10060390	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10061367	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10064098	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10064357	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10089	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs1012851	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1036171	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10463838	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs10478796	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10478798	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10478803	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs13355233	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13356473	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13357268	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13358455	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1368270	0.84[CHB][hapmap]
rs1432614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1432615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1559263	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1560636	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17164310	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs17164427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17764954	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1842006	0.95[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs1864922	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864923	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1962291	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985268	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054444	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs2228112	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2409109	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2898096	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3087889	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs35212223	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792866	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3805606	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805607	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3805612	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs3805615	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs3816006	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835939	0.85[CHB][hapmap]
rs4835940	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835941	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4835943	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4835944	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4836358	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836359	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836360	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836361	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836363	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836366	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4836367	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4836368	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836369	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836370	0.85[AMR][1000 genomes]
rs56066100	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58433932	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60964984	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373701	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595798	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6595800	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595806	0.95[CEU][hapmap];0.85[AMR][1000 genomes]
rs6862701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6873339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879970	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6887847	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs736969	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs758179	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7703634	0.95[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs7713860	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7718286	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7732599	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790156	0.85[YRI][hapmap]
rs806100	0.82[YRI][hapmap]
rs883074	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs891886	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9968597	0.87[AMR][1000 genomes];0.88[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	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
5	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
7	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
8	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
9	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
13	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:127334600-127394000	Weak transcription	Lung	lung
15	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
16	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
17	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:127338400-127355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:127338600-127358400	Weak transcription	HMEC	breast
20	chr5:127338600-127359400	Weak transcription	Ovary	ovary
21	chr5:127339000-127354600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:127341800-127356000	Weak transcription	Psoas Muscle	Psoas
23	chr5:127342000-127358600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:127343800-127361600	Weak transcription	Adipose Nuclei	Adipose
26	chr5:127345400-127355800	Weak transcription	Gastric	stomach
27	chr5:127345400-127357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:127345600-127371400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:127347000-127358400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:127347400-127362200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:127347800-127365800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:127349400-127357600	Weak transcription	Osteobl	bone
33	chr5:127350400-127358400	Weak transcription	HSMM	muscle
34	chr5:127350600-127357000	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:127350600-127357800	Weak transcription	Spleen	Spleen
36	chr5:127350600-127358000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:127350600-127362600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:127350800-127356400	Weak transcription	Stomach Mucosa	stomach
39	chr5:127351000-127372800	Weak transcription	Brain Angular Gyrus	brain
40	chr5:127351200-127353000	Enhancers	K562	blood
41	chr5:127351200-127354400	Weak transcription	HSMMtube	muscle
42	chr5:127351800-127355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:127352000-127354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:127352000-127360200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:127352000-127372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:127352200-127357800	Weak transcription	A549	lung
47	chr5:127352200-127366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:127352400-127356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:127352600-127361400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:127352800-127353800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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