Variant report

Variant	rs67277863
Chromosome Location	chr5:42518336-42518337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42517998..42519578-chr5:42522627..42524387,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13168764	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171720	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13184352	1.00[ASN][1000 genomes]
rs13187542	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17574527	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17575164	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28943878	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28943880	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33939197	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34975809	1.00[ASN][1000 genomes]
rs35003055	1.00[ASN][1000 genomes]
rs35185573	1.00[ASN][1000 genomes]
rs35525634	1.00[ASN][1000 genomes]
rs35920615	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129472	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129645	1.00[ASN][1000 genomes]
rs56144821	1.00[ASN][1000 genomes]
rs67005744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67812331	1.00[ASN][1000 genomes]
rs67871277	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6863381	1.00[ASN][1000 genomes]
rs7703669	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7718962	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9763260	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv3376927	chr5:42518277-42518626	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42515400-42518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:42515400-42518600	Weak transcription	Fetal Lung	lung
3	chr5:42515600-42518600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:42515600-42520600	Weak transcription	Fetal Heart	heart
5	chr5:42515800-42520800	Weak transcription	Aorta	Aorta
6	chr5:42516400-42518800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:42516400-42521400	Enhancers	Fetal Muscle Leg	muscle
8	chr5:42516400-42525000	Enhancers	Adipose Nuclei	Adipose
9	chr5:42516600-42519200	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:42516600-42521600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:42516800-42518800	Weak transcription	Right Ventricle	heart
12	chr5:42517000-42518600	Weak transcription	Left Ventricle	heart
13	chr5:42517000-42520200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:42517200-42518400	Weak transcription	Fetal Stomach	stomach
15	chr5:42517200-42518600	Weak transcription	HSMMtube	muscle
16	chr5:42517200-42520600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:42517400-42518800	Enhancers	Psoas Muscle	Psoas
18	chr5:42517400-42520800	Weak transcription	Colonic Mucosa	Colon
19	chr5:42517600-42518400	Weak transcription	NHDF-Ad	bronchial
20	chr5:42517600-42518600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:42517600-42518600	Weak transcription	Ovary	ovary
22	chr5:42517600-42518800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:42517600-42519400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:42517600-42519600	Weak transcription	Fetal Kidney	kidney
25	chr5:42517600-42519800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:42517600-42520800	Weak transcription	Right Atrium	heart
27	chr5:42517600-42522400	Enhancers	Liver	Liver
28	chr5:42517800-42519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr5:42518200-42518600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:42518200-42521600	Enhancers	Skeletal Muscle Female	skeletal muscle

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