Variant report

Variant	rs17045971
Chromosome Location	chr4:166030968-166030969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166030684..166033525-chr4:166643977..166646390,2	K562	blood:
2	chr4:166028971..166031513-chr4:166128061..166130245,2	K562	blood:
3	chr4:166030658..166033358-chr4:166390632..166393023,2	K562	blood:

Variant related genes	Relation type
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10020762	1.00[EUR][1000 genomes]
rs1010789	1.00[EUR][1000 genomes]
rs10471095	1.00[EUR][1000 genomes]
rs12331544	1.00[EUR][1000 genomes]
rs17046014	1.00[EUR][1000 genomes]
rs17046090	1.00[EUR][1000 genomes]
rs28378286	1.00[EUR][1000 genomes]
rs28473214	1.00[EUR][1000 genomes]
rs35185510	1.00[EUR][1000 genomes]
rs56273239	1.00[EUR][1000 genomes]
rs56773203	1.00[EUR][1000 genomes]
rs57046161	1.00[EUR][1000 genomes]
rs57723498	1.00[EUR][1000 genomes]
rs59095513	1.00[EUR][1000 genomes]
rs59321394	1.00[EUR][1000 genomes]
rs59526711	1.00[EUR][1000 genomes]
rs6832758	1.00[EUR][1000 genomes]
rs73001962	1.00[EUR][1000 genomes]
rs73002512	1.00[EUR][1000 genomes]
rs73002525	1.00[EUR][1000 genomes]
rs7440598	1.00[EUR][1000 genomes]
rs7664156	1.00[EUR][1000 genomes]
rs7667476	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
3	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
4	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
5	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:165999600-166033000	Weak transcription	Osteobl	bone
7	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
8	chr4:166005800-166033000	Weak transcription	NH-A	brain
9	chr4:166007200-166033000	Weak transcription	A549	lung
10	chr4:166007400-166032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:166007600-166033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:166007600-166033000	Weak transcription	HSMMtube	muscle
13	chr4:166008000-166032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:166008600-166032600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:166008600-166032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:166008600-166033000	Weak transcription	Colonic Mucosa	Colon
17	chr4:166008600-166033200	Weak transcription	Gastric	stomach
18	chr4:166009200-166033400	Weak transcription	Small Intestine	intestine
19	chr4:166009800-166031200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:166009800-166032600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:166009800-166032800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:166009800-166032800	Weak transcription	HMEC	breast
23	chr4:166009800-166033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:166009800-166033000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:166009800-166033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:166009800-166033200	Weak transcription	Esophagus	oesophagus
27	chr4:166010000-166032600	Weak transcription	Brain Substantia Nigra	brain
28	chr4:166010000-166032800	Weak transcription	Fetal Kidney	kidney
29	chr4:166010000-166033000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:166010000-166033000	Weak transcription	Brain Angular Gyrus	brain
31	chr4:166010000-166033200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:166020800-166033000	Weak transcription	NHLF	lung
33	chr4:166021000-166033000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:166021000-166033000	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:166021000-166033200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:166021200-166032600	Weak transcription	Fetal Heart	heart
37	chr4:166021400-166033000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:166022000-166032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:166022000-166033000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:166023000-166033200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:166023200-166032600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:166023200-166032600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:166023200-166032800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:166023200-166032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:166023200-166032800	Weak transcription	HUVEC	blood vessel
46	chr4:166023200-166033000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:166023200-166033000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:166023200-166033000	Weak transcription	Right Ventricle	heart
49	chr4:166023200-166033200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:166023200-166033200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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