Variant report

Variant	rs6863381
Chromosome Location	chr5:42520368-42520369
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42518684..42521037-chr5:42577892..42580696,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10041108	1.00[CHB][hapmap]
rs10440649	1.00[CHB][hapmap]
rs10941578	0.90[CEU][hapmap]
rs11739444	0.86[CEU][hapmap]
rs11740415	0.85[CEU][hapmap]
rs11949751	0.85[CEU][hapmap]
rs11955075	0.85[CEU][hapmap]
rs11957404	1.00[CHB][hapmap]
rs12521020	0.85[CEU][hapmap]
rs13154521	0.88[EUR][1000 genomes]
rs13156541	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs13160458	0.91[CEU][hapmap]
rs13168764	1.00[ASN][1000 genomes]
rs13171720	1.00[CHB][hapmap]
rs13182117	1.00[CHB][hapmap]
rs13184352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188386	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13354167	1.00[CHB][hapmap]
rs17574527	1.00[CHB][hapmap]
rs17574616	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs17575164	1.00[CHB][hapmap]
rs17636762	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs28943880	1.00[ASN][1000 genomes]
rs28943882	1.00[CHB][hapmap]
rs33939197	1.00[ASN][1000 genomes]
rs34975809	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003055	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35185573	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35418208	0.87[EUR][1000 genomes]
rs35500216	0.99[EUR][1000 genomes]
rs35525634	1.00[ASN][1000 genomes]
rs35920615	1.00[ASN][1000 genomes]
rs4129472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4129645	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4292454	1.00[CHB][hapmap]
rs4365846	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs4368736	0.80[EUR][1000 genomes]
rs4395642	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs4493680	0.90[CEU][hapmap]
rs4504390	0.80[CEU][hapmap]
rs5025611	1.00[CHB][hapmap]
rs56144821	1.00[ASN][1000 genomes]
rs56781446	0.87[EUR][1000 genomes]
rs61043035	0.87[EUR][1000 genomes]
rs6414898	1.00[CHB][hapmap]
rs6451634	1.00[CHB][hapmap]
rs6451641	1.00[CHB][hapmap]
rs67005744	1.00[ASN][1000 genomes]
rs67277863	1.00[ASN][1000 genomes]
rs67812331	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859653	0.85[CEU][hapmap]
rs6873340	1.00[CHB][hapmap]
rs6881929	0.85[CEU][hapmap]
rs6896667	0.86[CEU][hapmap]
rs7444761	1.00[CHB][hapmap]
rs7702524	1.00[CHB][hapmap]
rs7703669	1.00[CHB][hapmap]
rs7703713	0.90[CEU][hapmap]
rs7707913	0.85[CEU][hapmap]
rs7709790	1.00[CHB][hapmap]
rs7718962	1.00[CHB][hapmap]
rs7735889	0.85[CEU][hapmap]
rs7736209	0.85[CEU][hapmap]
rs9292854	1.00[CHB][hapmap]
rs9763260	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42515600-42520600	Weak transcription	Fetal Heart	heart
2	chr5:42515800-42520800	Weak transcription	Aorta	Aorta
3	chr5:42516400-42521400	Enhancers	Fetal Muscle Leg	muscle
4	chr5:42516400-42525000	Enhancers	Adipose Nuclei	Adipose
5	chr5:42516600-42521600	Enhancers	Colon Smooth Muscle	Colon
6	chr5:42517200-42520600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:42517400-42520800	Weak transcription	Colonic Mucosa	Colon
8	chr5:42517600-42520800	Weak transcription	Right Atrium	heart
9	chr5:42517600-42522400	Enhancers	Liver	Liver
10	chr5:42518200-42521600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:42518600-42521200	Enhancers	Fetal Lung	lung
12	chr5:42518800-42520600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42519200-42520400	Weak transcription	Left Ventricle	heart
14	chr5:42519200-42520800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:42519200-42521200	Weak transcription	Right Ventricle	heart
16	chr5:42519200-42521600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:42519200-42522400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:42519400-42520400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:42519400-42520600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:42519400-42522200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:42519400-42523000	Weak transcription	NHDF-Ad	bronchial
22	chr5:42519600-42521400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:42519800-42521400	Enhancers	Psoas Muscle	Psoas
24	chr5:42519800-42521600	Enhancers	Fetal Intestine Large	intestine
25	chr5:42520000-42520800	Weak transcription	Fetal Stomach	stomach
26	chr5:42520200-42521000	Enhancers	Fetal Intestine Small	intestine
27	chr5:42520200-42523800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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