Variant report

Variant	rs7671167
Chromosome Location	chr4:89883979-89883980
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	chr4:89883284..89885618-chr4:89895803..89899472,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10008568	1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[ASN][1000 genomes]
rs10015415	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs1246642	0.82[CHD][hapmap]
rs13149750	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1458562	1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[ASN][1000 genomes]
rs1708667	0.80[ASN][1000 genomes]
rs1795720	0.80[ASN][1000 genomes]
rs1795736	0.80[ASN][1000 genomes]
rs1795739	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs1812329	0.95[ASN][1000 genomes]
rs1903003	0.94[ASW][hapmap];0.85[CEU][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1964516	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2013701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045517	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[ASN][1000 genomes]
rs2125409	0.83[ASN][1000 genomes]
rs2178586	0.80[ASN][1000 genomes]
rs2446300	0.83[CHB][hapmap]
rs2446301	0.82[CHB][hapmap]
rs2464528	0.81[CHD][hapmap]
rs2609255	0.81[CHD][hapmap]
rs2609258	0.83[CHB][hapmap]
rs2609259	0.82[CHB][hapmap]
rs2609261	0.83[CHB][hapmap]
rs2609262	0.83[CHB][hapmap]
rs2609264	0.81[CHD][hapmap]
rs2609279	0.82[CHB][hapmap]
rs2609280	0.83[CHB][hapmap]
rs2704589	0.83[CHB][hapmap]
rs2869966	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[ASN][1000 genomes]
rs2869967	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[ASN][1000 genomes]
rs2904259	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846287	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4416442	0.94[ASN][1000 genomes]
rs4505789	0.86[ASN][1000 genomes]
rs4693974	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs4693978	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4693980	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6823536	0.80[ASN][1000 genomes]
rs6824218	0.89[ASN][1000 genomes]
rs6828137	0.84[JPT][hapmap]
rs6837671	0.93[ASN][1000 genomes]
rs6849143	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6852288	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs6852928	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7671261	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7674369	0.95[ASN][1000 genomes]
rs7682317	0.94[ASN][1000 genomes]
rs7690839	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv879533	chr4:89832532-89917135	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1829430	chr4:89853598-89908308	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Chronic obstructive pulmonary disease	20173748	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89852400-89885000	Weak transcription	Fetal Lung	lung
2	chr4:89871000-89888600	Weak transcription	Small Intestine	intestine
3	chr4:89873000-89886000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:89877000-89889000	Weak transcription	Gastric	stomach
5	chr4:89877800-89885600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr4:89878400-89927600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:89878600-89888600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:89879400-89884800	Weak transcription	Osteobl	bone
9	chr4:89879600-89885800	Weak transcription	Esophagus	oesophagus
10	chr4:89879600-89888800	Weak transcription	Psoas Muscle	Psoas
11	chr4:89879600-89894000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:89879600-89911200	Weak transcription	K562	blood
13	chr4:89879600-89913000	Weak transcription	Aorta	Aorta
14	chr4:89879800-89894600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:89879800-89909200	Weak transcription	Ovary	ovary
16	chr4:89880000-89885000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:89880000-89902400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:89880000-89903000	Weak transcription	Pancreas	Pancrea
19	chr4:89880600-89884000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:89881200-89885000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:89882000-89885000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:89882200-89889000	Weak transcription	Hela-S3	cervix
23	chr4:89882400-89884400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:89882400-89884800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:89882400-89885000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:89882400-89885000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:89882400-89885000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:89882400-89885800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:89882400-89889000	Weak transcription	Adipose Nuclei	Adipose
30	chr4:89882400-89894200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:89882400-89916400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:89882800-89884800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:89883000-89884000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:89883000-89884000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:89883000-89884000	Enhancers	Fetal Intestine Small	intestine
36	chr4:89883400-89884000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:89883400-89884000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:89883400-89884000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:89883400-89884200	Enhancers	HMEC	breast
40	chr4:89883400-89886400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:89883600-89884000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:89883600-89884200	Enhancers	NHDF-Ad	bronchial
43	chr4:89883600-89885000	Enhancers	A549	lung
44	chr4:89883600-89885200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:89883600-89885400	Enhancers	Fetal Intestine Large	intestine
46	chr4:89883600-89886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:89883800-89884200	Weak transcription	Placenta	Placenta
48	chr4:89883800-89884600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:89883800-89885000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:89883800-89885000	Weak transcription	Rectal Mucosa Donor 31	rectum

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