Variant report

Variant	rs4243475
Chromosome Location	chr6:145114935-145114936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1538399	0.81[ASW][hapmap];0.83[CEU][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1538400	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4392737	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4451147	0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895654	0.92[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4896745	0.92[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4896749	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4896750	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6915047	0.92[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6920643	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6926377	0.88[ASW][hapmap];0.96[LWK][hapmap];0.82[MKK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs6936742	0.88[YRI][hapmap];0.92[AFR][1000 genomes]
rs7744222	0.92[CEU][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7747936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759693	0.88[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.88[YRI][hapmap];0.92[AFR][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	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	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
3	nsv886740	chr6:145105354-145199259	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
2	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
3	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
5	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:145068800-145115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:145080000-145115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:145084000-145155800	Weak transcription	Right Ventricle	heart
9	chr6:145085400-145119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:145085800-145134800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:145086800-145115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:145087400-145115000	Weak transcription	Gastric	stomach
13	chr6:145089600-145138400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:145090000-145136800	Weak transcription	Fetal Heart	heart
15	chr6:145090400-145115000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:145090800-145115400	Weak transcription	Fetal Brain Male	brain
17	chr6:145091000-145115000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:145091000-145115000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:145091000-145145000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:145091200-145117200	Weak transcription	Psoas Muscle	Psoas
21	chr6:145093400-145119800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:145094400-145136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:145095000-145119000	Weak transcription	NH-A	brain
24	chr6:145095200-145115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:145095200-145118800	Weak transcription	GM12878-XiMat	blood
26	chr6:145096000-145118600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:145096800-145118600	Weak transcription	HUVEC	blood vessel
28	chr6:145097400-145115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:145097800-145115000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:145097800-145115000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:145097800-145115000	Weak transcription	Fetal Stomach	stomach
32	chr6:145097800-145115000	Weak transcription	Thymus	Thymus
33	chr6:145097800-145115200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:145097800-145115200	Weak transcription	Osteobl	bone
35	chr6:145098000-145115000	Weak transcription	HSMMtube	muscle
36	chr6:145098000-145118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:145099600-145165800	Weak transcription	Small Intestine	intestine
38	chr6:145100000-145137600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr6:145100400-145115000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:145100400-145115200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:145100400-145118800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:145100400-145125600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:145100400-145133200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:145100400-145145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:145102200-145123600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr6:145102400-145115000	Weak transcription	Aorta	Aorta
47	chr6:145102400-145115000	Weak transcription	Lung	lung
48	chr6:145102600-145115000	Weak transcription	Pancreas	Pancrea
49	chr6:145102600-145115000	Weak transcription	Spleen	Spleen
50	chr6:145103600-145115000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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