Variant report

Variant	rs1146585
Chromosome Location	chr1:76227848-76227849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76226797..76230209-chr1:76256987..76259479,3	K562	blood:
3	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
4	chr1:76188926..76192007-chr1:76225372..76229604,4	K562	blood:
5	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
6	chr1:76204248..76206118-chr1:76227096..76229498,2	K562	blood:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000201487	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1021463	1.00[EUR][1000 genomes]
rs1068884	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs1093007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093010	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[EUR][1000 genomes]
rs1146576	1.00[EUR][1000 genomes]
rs1146578	1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146596	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146597	0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146599	0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146600	0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146601	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs12070736	0.83[AMR][1000 genomes]
rs12073631	0.83[AMR][1000 genomes]
rs1250879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251066	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251074	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251076	0.86[AFR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1251532	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1591119	1.00[EUR][1000 genomes]
rs1616175	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1746747	0.83[AMR][1000 genomes]
rs1759274	0.83[AMR][1000 genomes]
rs1759275	0.83[AMR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs1796809	1.00[EUR][1000 genomes]
rs211714	1.00[EUR][1000 genomes]
rs211720	1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[EUR][1000 genomes]
rs211739	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs3119821	1.00[EUR][1000 genomes]
rs381183	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392695	1.00[EUR][1000 genomes]
rs445008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696678	0.91[AMR][1000 genomes]
rs699678	0.83[AMR][1000 genomes]
rs699684	1.00[EUR][1000 genomes]
rs699685	1.00[EUR][1000 genomes]
rs699686	1.00[EUR][1000 genomes]
rs699687	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699688	1.00[EUR][1000 genomes]
rs699689	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699823	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699826	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[EUR][1000 genomes]
rs814852	1.00[EUR][1000 genomes]
rs814854	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815300	1.00[EUR][1000 genomes]
rs815302	1.00[EUR][1000 genomes]
rs815312	1.00[EUR][1000 genomes]
rs9437227	0.91[AMR][1000 genomes];1.00[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv933422	chr1:76226756-76229348	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
2	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
3	chr1:76208800-76231400	Weak transcription	A549	lung
4	chr1:76208800-76231400	Weak transcription	NHEK	skin
5	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
6	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
7	chr1:76209000-76230800	Weak transcription	NHLF	lung
8	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
9	chr1:76211600-76230800	Weak transcription	HMEC	breast
10	chr1:76217600-76231400	Weak transcription	Osteobl	bone
11	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:76220800-76228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:76220800-76229600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:76221200-76229600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:76221200-76229800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:76221200-76230200	Weak transcription	Small Intestine	intestine
17	chr1:76221200-76231400	Weak transcription	Gastric	stomach
18	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:76221400-76229000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:76221400-76230000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
23	chr1:76221400-76231200	Weak transcription	NH-A	brain
24	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
25	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
26	chr1:76221600-76229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:76221600-76229000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:76221600-76229400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:76221600-76230800	Weak transcription	Lung	lung
31	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
32	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
34	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
36	chr1:76221600-76231400	Weak transcription	Ovary	ovary
37	chr1:76221600-76231400	Weak transcription	HSMM	muscle
38	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
40	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
43	chr1:76221800-76228600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:76221800-76229400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:76221800-76230000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood
47	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
48	chr1:76222000-76229400	Weak transcription	Left Ventricle	heart
49	chr1:76222000-76230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:76222000-76230800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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