Variant report

Variant	rs6702462
Chromosome Location	chr1:165812120-165812121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165740929..165742597-chr1:165810397..165813179,2	K562	blood:
2	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
3	chr1:165654373..165656083-chr1:165811609..165814179,2	K562	blood:
4	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
5	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:
6	chr1:165810645..165813480-chr1:165823292..165825548,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10737519	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753694	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10800162	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10918291	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10918294	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11590711	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12041574	0.91[CHB][hapmap]
rs1934275	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2185268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800847	0.96[ASN][1000 genomes]
rs4483381	0.95[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs4535982	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4548416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs4657481	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6426941	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426942	0.82[CHB][hapmap]
rs6677965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6678380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6682894	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6684773	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6686237	0.89[ASN][1000 genomes]
rs6690966	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7517175	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7539793	0.91[ASN][1000 genomes]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:165807600-165812800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:165808200-165814200	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:165809600-165812600	Enhancers	Fetal Heart	heart
7	chr1:165809600-165812600	Enhancers	Fetal Intestine Small	intestine
8	chr1:165810600-165812400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:165810600-165812400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:165810600-165812400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:165810600-165812400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:165810600-165812400	Flanking Active TSS	Dnd41	blood
13	chr1:165810600-165812400	Enhancers	HepG2	liver
14	chr1:165810600-165812600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:165810600-165812800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:165810600-165812800	Enhancers	HMEC	breast
17	chr1:165810600-165813000	Enhancers	Pancreas	Pancrea
18	chr1:165810600-165813200	Enhancers	Psoas Muscle	Psoas
19	chr1:165810600-165813400	Enhancers	Stomach Mucosa	stomach
20	chr1:165810800-165812200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:165810800-165812200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:165810800-165812400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:165810800-165812400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:165810800-165812400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:165810800-165812400	Enhancers	Right Atrium	heart
26	chr1:165810800-165812400	Enhancers	Right Ventricle	heart
27	chr1:165810800-165812400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr1:165810800-165812800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:165810800-165812800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:165810800-165812800	Enhancers	NHEK	skin
31	chr1:165810800-165813000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:165810800-165813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:165810800-165813000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:165810800-165813000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:165810800-165813000	Enhancers	Gastric	stomach
36	chr1:165810800-165813000	Enhancers	Hela-S3	cervix
37	chr1:165810800-165813000	Enhancers	HUVEC	blood vessel
38	chr1:165810800-165813000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:165810800-165813000	Enhancers	NHDF-Ad	bronchial
40	chr1:165810800-165813200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:165810800-165813600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:165810800-165814000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:165810800-165814000	Enhancers	Small Intestine	intestine
44	chr1:165810800-165814400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:165810800-165817000	Enhancers	Fetal Thymus	thymus
46	chr1:165811000-165812400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:165811000-165812400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:165811000-165812400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:165811000-165812400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:165811000-165812400	Flanking Active TSS	GM12878-XiMat	blood

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