Variant report

Variant	rs17378384
Chromosome Location	chr1:62145065-62145066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62136630..62139811-chr1:62142611..62146521,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11207807	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207808	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151756	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151757	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151759	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151762	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151770	0.87[CEU][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151771	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151773	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151775	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs1151776	0.88[EUR][1000 genomes]
rs12117475	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124430	0.93[CEU][hapmap];1.00[CHB][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]
rs12130241	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12130439	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134102	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134205	0.93[CEU][hapmap];1.00[CHB][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]
rs12134428	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12137410	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12141280	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141298	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143420	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12144284	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1286624	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1286625	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1286626	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1286628	0.90[EUR][1000 genomes]
rs1286629	0.90[EUR][1000 genomes]
rs1286630	0.90[EUR][1000 genomes]
rs1286634	0.87[EUR][1000 genomes]
rs1611797	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1620169	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1692131	0.84[EUR][1000 genomes]
rs1692132	0.87[EUR][1000 genomes]
rs1779267	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051135	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051136	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2799626	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4443919	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6666057	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6691402	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697770	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6698656	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs72672375	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72672390	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674608	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7536565	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7538825	0.87[EUR][1000 genomes]
rs7539026	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7550631	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking 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	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62103400-62146400	Weak transcription	Gastric	stomach
2	chr1:62120400-62148200	Weak transcription	Aorta	Aorta
3	chr1:62126000-62145800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:62126000-62148800	Weak transcription	Left Ventricle	heart
5	chr1:62126000-62165200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:62131600-62151400	Weak transcription	Lung	lung
7	chr1:62131600-62163800	Weak transcription	Thymus	Thymus
8	chr1:62134800-62164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:62134800-62164400	Weak transcription	Right Ventricle	heart
10	chr1:62135000-62146000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:62135000-62165000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:62135400-62146200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:62136000-62146000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:62136000-62151200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:62136000-62153400	Weak transcription	NHDF-Ad	bronchial
16	chr1:62136600-62145600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:62136600-62145800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:62136600-62151800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:62137000-62146000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:62137000-62146200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:62137200-62145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:62137400-62146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:62137400-62146200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:62137600-62145600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:62138000-62146200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:62138400-62145800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:62138400-62146200	Weak transcription	Esophagus	oesophagus
29	chr1:62138600-62148000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:62138800-62146200	Weak transcription	Fetal Lung	lung
31	chr1:62138800-62146200	Weak transcription	HMEC	breast
32	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
33	chr1:62139800-62145600	Weak transcription	Primary T cells from cord blood	blood
34	chr1:62139800-62146200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:62139800-62146200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:62140000-62189000	Weak transcription	NHLF	lung
37	chr1:62140200-62163800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:62141400-62146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:62141600-62145600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:62141600-62146200	Weak transcription	GM12878-XiMat	blood
41	chr1:62142000-62146000	Weak transcription	HSMM	muscle
42	chr1:62142200-62146000	Weak transcription	Fetal Thymus	thymus
43	chr1:62142200-62149400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:62142400-62146200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:62142600-62147400	Weak transcription	Brain Anterior Caudate	brain
46	chr1:62142800-62148200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:62142800-62149400	Weak transcription	Small Intestine	intestine
48	chr1:62142800-62157800	Weak transcription	A549	lung
49	chr1:62142800-62172200	Weak transcription	Ovary	ovary
50	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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