Variant report

Variant	rs6669293
Chromosome Location	chr1:85777524-85777525
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85775211..85778145-chr1:85779507..85781328,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10493764	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs11161573	0.86[CHB][hapmap]
rs12402128	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13373844	0.89[YRI][hapmap]
rs1523993	0.86[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs17387935	0.85[ASN][1000 genomes]
rs17590006	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs35092233	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35294786	0.85[ASN][1000 genomes]
rs35876501	0.85[ASN][1000 genomes]
rs35956189	0.82[ASN][1000 genomes]
rs36062892	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768226	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs61769484	0.90[ASN][1000 genomes]
rs61769490	0.88[ASN][1000 genomes]
rs61783046	0.85[ASN][1000 genomes]
rs6659486	0.85[ASN][1000 genomes]
rs6673833	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7540393	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7555486	0.82[YRI][hapmap]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85772800-85779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85774000-85779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:85774400-85777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:85774400-85778000	Weak transcription	HMEC	breast
5	chr1:85774400-85779400	Weak transcription	Aorta	Aorta
6	chr1:85774600-85777600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:85774600-85777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:85774600-85777600	Weak transcription	Right Ventricle	heart
9	chr1:85774600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:85774600-85777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85774600-85779000	Weak transcription	Fetal Heart	heart
12	chr1:85774600-85779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:85774600-85779400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85774600-85779600	Weak transcription	Fetal Lung	lung
15	chr1:85774600-85779600	Weak transcription	Ovary	ovary
16	chr1:85774600-85779800	Weak transcription	Placenta	Placenta
17	chr1:85774600-85779800	Weak transcription	Right Atrium	heart
18	chr1:85774600-85780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:85774600-85780000	Weak transcription	Lung	lung
20	chr1:85774600-85780000	Weak transcription	Pancreas	Pancrea
21	chr1:85774600-85780000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:85774600-85780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:85774600-85782400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:85774600-85785200	Weak transcription	Liver	Liver
25	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
26	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
27	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
28	chr1:85774800-85777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85774800-85777600	Weak transcription	Fetal Brain Female	brain
32	chr1:85774800-85777600	Weak transcription	NHDF-Ad	bronchial
33	chr1:85774800-85777800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:85774800-85777800	Weak transcription	Psoas Muscle	Psoas
35	chr1:85774800-85777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:85774800-85779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:85774800-85779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:85774800-85782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:85774800-85782200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:85774800-85784000	Weak transcription	HepG2	liver
41	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:85775000-85777600	Weak transcription	HSMM	muscle
45	chr1:85775000-85777600	Weak transcription	NH-A	brain
46	chr1:85775000-85777800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:85775000-85779600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:85775000-85781400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:85775200-85777600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:85775400-85777600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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