Variant report

Variant	rs4243474
Chromosome Location	chr6:145096340-145096341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10192	0.87[TSI][hapmap]
rs12173916	0.83[EUR][1000 genomes]
rs2328571	0.85[CHB][hapmap]
rs4272231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295503	0.83[CHD][hapmap]
rs4305737	0.89[CEU][hapmap];0.83[CHD][hapmap]
rs4385333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4463276	0.84[CEU][hapmap];0.83[CHD][hapmap]
rs4479957	0.83[CHD][hapmap]
rs4571589	0.80[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs4896738	0.85[CHB][hapmap]
rs4896740	0.83[CHD][hapmap]
rs4896747	0.85[EUR][1000 genomes]
rs62427232	0.85[EUR][1000 genomes]
rs6570644	0.80[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.83[AMR][1000 genomes]
rs6901062	0.87[EUR][1000 genomes]
rs6901197	0.80[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[AMR][1000 genomes]
rs6905526	0.86[MEX][hapmap];0.87[TSI][hapmap]
rs6906948	0.85[CHB][hapmap]
rs6927442	0.95[GIH][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs6939586	0.88[CEU][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes]
rs7742259	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7750326	0.85[CHB][hapmap]
rs7756909	0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[AMR][1000 genomes]
rs7758369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321990	0.83[CHD][hapmap]
rs9373425	0.85[CHB][hapmap]
rs9373427	0.85[EUR][1000 genomes]
rs9373430	0.83[MEX][hapmap]
rs9376854	0.85[EUR][1000 genomes]
rs9376859	0.85[EUR][1000 genomes]
rs9376865	0.83[MEX][hapmap]
rs9390201	0.85[CHB][hapmap]
rs9390208	0.83[CHD][hapmap]
rs9403593	0.89[CHB][hapmap]
rs9791320	0.91[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
2	chr6:145040000-145114600	Weak transcription	NHLF	lung
3	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
4	chr6:145047600-145096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
6	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:145049400-145098400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:145054400-145100000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:145059600-145096600	Weak transcription	Lung	lung
10	chr6:145059600-145097400	Weak transcription	Spleen	Spleen
11	chr6:145059800-145096600	Weak transcription	Fetal Stomach	stomach
12	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
13	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:145068800-145115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:145069800-145101800	Weak transcription	Aorta	Aorta
16	chr6:145072200-145101800	Weak transcription	Fetal Intestine Large	intestine
17	chr6:145073200-145105400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:145075000-145108800	Strong transcription	Primary B cells from cord blood	blood
19	chr6:145080000-145115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:145084000-145155800	Weak transcription	Right Ventricle	heart
21	chr6:145084200-145101000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:145085400-145119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:145085800-145134800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:145086800-145115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:145087400-145115000	Weak transcription	Gastric	stomach
26	chr6:145088000-145102000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:145089600-145138400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:145090000-145136800	Weak transcription	Fetal Heart	heart
29	chr6:145090400-145115000	Weak transcription	Brain Anterior Caudate	brain
30	chr6:145090800-145097000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:145090800-145100000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:145090800-145100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:145090800-145115400	Weak transcription	Fetal Brain Male	brain
34	chr6:145091000-145096400	Weak transcription	HSMMtube	muscle
35	chr6:145091000-145096800	Weak transcription	Fetal Kidney	kidney
36	chr6:145091000-145097400	Weak transcription	Pancreas	Pancrea
37	chr6:145091000-145098800	Weak transcription	Small Intestine	intestine
38	chr6:145091000-145100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:145091000-145105200	Weak transcription	HSMM	muscle
40	chr6:145091000-145107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:145091000-145107800	Weak transcription	Ovary	ovary
42	chr6:145091000-145114400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:145091000-145114400	Weak transcription	NHDF-Ad	bronchial
44	chr6:145091000-145115000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:145091000-145115000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:145091000-145145000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:145091200-145117200	Weak transcription	Psoas Muscle	Psoas
48	chr6:145092000-145098200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:145093200-145098200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:145093200-145098200	Strong transcription	Adipose Nuclei	Adipose

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