Variant report

Variant	rs6683363
Chromosome Location	chr1:186927369-186927370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186926978..186929684-chr1:186930971..186933125,2	K562	blood:
2	chr1:186923105..186924782-chr1:186925954..186927593,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1003348	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10737275	1.00[EUR][1000 genomes]
rs10737276	1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10752984	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10752985	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10752987	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10798074	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911964	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1467392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1555201	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1555202	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1555203	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2064471	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2142761	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2205899	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2207210	1.00[EUR][1000 genomes]
rs2207211	1.00[EUR][1000 genomes]
rs2207212	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2223310	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2223909	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2307198	1.00[GIH][hapmap]
rs2307199	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383555	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4272579	1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650705	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4650709	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650710	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650711	1.00[GIH][hapmap]
rs4650713	1.00[GIH][hapmap]
rs5007824	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6425060	0.98[EUR][1000 genomes]
rs6425061	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425062	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6425064	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425065	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425066	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425067	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664561	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6670830	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671076	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674263	1.00[GIH][hapmap]
rs6675261	0.93[EUR][1000 genomes]
rs6675277	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678801	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678891	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6679956	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685195	1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685207	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688401	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690278	1.00[GIH][hapmap]
rs6691582	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695108	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6695425	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6695438	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs725892	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7522213	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522714	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7526859	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547623	1.00[EUR][1000 genomes]
rs969357	1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs969358	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975762	0.86[AMR][1000 genomes];0.91[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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:186900000-186935800	Weak transcription	NHDF-Ad	bronchial
6	chr1:186908000-186933800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:186909800-186932600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:186912400-186934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:186917000-186929000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:186917400-186934800	Weak transcription	Colonic Mucosa	Colon
11	chr1:186919000-186937000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:186919600-186944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:186919800-186928600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:186920400-186933600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:186920400-186939000	Weak transcription	A549	lung
16	chr1:186921600-186935400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:186923800-186928000	Weak transcription	Fetal Lung	lung
19	chr1:186925000-186927400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:186925000-186927600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:186925200-186927400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:186925200-186928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186925400-186929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:186926000-186928000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:186926600-186927800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:186926800-186929200	Weak transcription	Fetal Stomach	stomach
27	chr1:186926800-186933400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:186926800-186933600	Weak transcription	Hela-S3	cervix
29	chr1:186926800-186936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:186926800-186951200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:186927000-186928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:186927000-186930200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:186927000-186933600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:186927200-186933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:186927200-186934000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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