Variant report

Variant	rs1044044
Chromosome Location	chr4:100820850-100820851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100815313..100817672-chr4:100818504..100822549,4	MCF-7	breast:
2	chr4:100819394..100821526-chr4:100823145..100825504,2	K562	blood:
3	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
4	chr4:100820568..100823308-chr4:100824900..100827243,2	K562	blood:
5	chr4:100814584..100817913-chr4:100818324..100821681,5	K562	blood:
6	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
7	chr4:100815138..100817913-chr4:100819745..100821681,2	K562	blood:
8	chr4:100819072..100821321-chr4:100870712..100873019,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10516458	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]
rs11097676	0.84[CEU][hapmap]
rs11097679	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097680	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097682	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097683	0.98[ASN][1000 genomes]
rs11097685	0.94[ASN][1000 genomes]
rs11097686	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723286	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11736218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11931053	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931551	0.95[ASN][1000 genomes]
rs11932783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11935458	0.95[CEU][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11935615	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11936309	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11936580	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11937985	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11938952	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11939538	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941520	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11941799	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11942532	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11944405	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11944656	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11945303	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11947295	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11947412	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1365491	0.84[CEU][hapmap]
rs1465518	0.92[JPT][hapmap]
rs1465519	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs17029573	0.90[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17029662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17029724	0.89[ASN][1000 genomes]
rs2017707	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2081626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081627	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162386	0.92[JPT][hapmap]
rs2276939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2866179	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34453741	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733463	0.90[CEU][hapmap];0.92[JPT][hapmap]
rs3737484	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775500	0.84[CEU][hapmap]
rs3775501	0.84[CEU][hapmap]
rs3775512	0.84[JPT][hapmap]
rs3822103	0.92[JPT][hapmap]
rs4320141	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4536938	0.87[ASN][1000 genomes]
rs5015717	0.93[ASN][1000 genomes]
rs55726736	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55797991	0.86[ASN][1000 genomes]
rs55888547	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56007968	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56140620	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57322716	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58304154	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58391911	0.81[EUR][1000 genomes]
rs60070547	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61191235	0.81[ASN][1000 genomes]
rs61203457	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305038	0.87[ASN][1000 genomes]
rs62306101	0.92[ASN][1000 genomes]
rs6532834	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6532837	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6532839	0.89[ASN][1000 genomes]
rs6532840	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6813099	0.90[CEU][hapmap]
rs6814140	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6814181	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs6816635	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6817649	0.90[CEU][hapmap]
rs6824513	0.92[ASN][1000 genomes]
rs6829912	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6831193	0.95[ASN][1000 genomes]
rs6832726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838495	0.94[ASN][1000 genomes]
rs6842840	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6843247	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6845556	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6848666	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686215	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs732386	0.94[ASN][1000 genomes]
rs73832925	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7660185	0.92[ASN][1000 genomes]
rs7666156	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7666192	0.80[ASN][1000 genomes]
rs7686565	0.90[CEU][hapmap];0.92[JPT][hapmap]
rs7687287	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7688737	0.80[EUR][1000 genomes]
rs890486	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv980462	chr4:100819647-100825036	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 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	chr4:100815600-100840000	Weak transcription	Small Intestine	intestine
2	chr4:100816000-100823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:100816000-100829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:100816000-100839800	Weak transcription	Esophagus	oesophagus
5	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:100816000-100867000	Weak transcription	Lung	lung
7	chr4:100816200-100821200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:100816200-100821600	Weak transcription	NHDF-Ad	bronchial
9	chr4:100816200-100822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:100816200-100822000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:100816200-100822000	Weak transcription	Liver	Liver
12	chr4:100816200-100822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:100816200-100822000	Weak transcription	NH-A	brain
14	chr4:100816200-100822000	Weak transcription	Osteobl	bone
15	chr4:100816200-100822400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:100816200-100822800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:100816200-100822800	Weak transcription	Fetal Kidney	kidney
18	chr4:100816200-100823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:100816200-100823000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:100816200-100823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:100816200-100823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:100816200-100823200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:100816200-100823200	Weak transcription	Ovary	ovary
24	chr4:100816200-100823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:100816200-100823400	Weak transcription	Brain Anterior Caudate	brain
26	chr4:100816200-100823400	Weak transcription	HSMMtube	muscle
27	chr4:100816200-100823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:100816200-100823800	Weak transcription	Brain Angular Gyrus	brain
29	chr4:100816200-100827000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:100816200-100827200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:100816200-100827400	Weak transcription	K562	blood
32	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
34	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
36	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
37	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
38	chr4:100816200-100851400	Weak transcription	A549	lung
39	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:100816200-100853600	Weak transcription	NHLF	lung
41	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:100816400-100821000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:100816400-100821000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:100816400-100821600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:100816400-100821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:100816400-100821800	Weak transcription	Placenta	Placenta
47	chr4:100816400-100822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:100816400-100822000	Weak transcription	Fetal Thymus	thymus
49	chr4:100816400-100822200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:100816400-100822200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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