Variant report

Variant	rs4272646
Chromosome Location	chr1:161299491-161299492
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	chr1:161288348..161289973-chr1:161298719..161301055,2	K562	blood:
2	chr1:161278219..161280300-chr1:161298229..161300204,2	K562	blood:

Variant related genes	Relation type
ENSG00000158887	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11577663	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578160	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579939	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580931	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583870	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584714	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585941	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16832786	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16832847	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16832849	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832911	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832913	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832945	1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656296	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427589	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678315	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs72714971	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72714973	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714981	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714982	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714983	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714985	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715002	0.83[AMR][1000 genomes]
rs7519821	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538701	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793329	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3417674	chr1:161298229-161310433	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161284800-161300400	Weak transcription	Aorta	Aorta
2	chr1:161285000-161301800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
4	chr1:161285400-161299800	Weak transcription	Psoas Muscle	Psoas
5	chr1:161285400-161302000	Weak transcription	Fetal Brain Male	brain
6	chr1:161285400-161303400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:161285400-161303600	Weak transcription	NHLF	lung
8	chr1:161285400-161310200	Weak transcription	HUVEC	blood vessel
9	chr1:161285400-161321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:161285600-161302600	Weak transcription	Esophagus	oesophagus
11	chr1:161286800-161299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
13	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:161289600-161317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:161292600-161299600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:161293200-161304600	Strong transcription	Fetal Intestine Small	intestine
17	chr1:161293200-161306600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:161293200-161307800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:161293200-161315200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:161293200-161317000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:161293200-161317400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:161293400-161300000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:161293400-161302000	Strong transcription	Thymus	Thymus
24	chr1:161293400-161307400	Strong transcription	Fetal Stomach	stomach
25	chr1:161293400-161307800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:161293400-161315000	Strong transcription	Fetal Intestine Large	intestine
27	chr1:161293600-161304400	Strong transcription	Lung	lung
28	chr1:161293600-161307400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:161293800-161300400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:161293800-161300800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:161293800-161300800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:161293800-161300800	Strong transcription	HepG2	liver
33	chr1:161293800-161302000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:161293800-161304600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:161293800-161304600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:161293800-161304600	Strong transcription	Ovary	ovary
37	chr1:161293800-161304800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:161293800-161304800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:161293800-161305000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:161293800-161305000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:161293800-161305800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:161293800-161306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:161293800-161306000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:161293800-161306000	Strong transcription	Adipose Nuclei	Adipose
45	chr1:161293800-161306600	Strong transcription	Fetal Lung	lung
46	chr1:161293800-161306800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:161293800-161307200	Strong transcription	Left Ventricle	heart
48	chr1:161293800-161307200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:161293800-161307600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:161293800-161307600	Strong transcription	Duodenum Mucosa	Duodenum

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