Variant report

Variant	rs487114
Chromosome Location	chr1:196622901-196622902
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196577316..196579405-chr1:196622381..196624007,2	K562	blood:
2	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
3	chr1:196461764..196464743-chr1:196621639..196623886,2	K562	blood:
4	chr1:196581960..196583558-chr1:196622079..196624943,2	K562	blood:

Variant related genes	Relation type
ENSG00000162687	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10754193	1.00[CEU][hapmap]
rs12127759	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12128003	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12128544	1.00[CEU][hapmap]
rs12130004	1.00[EUR][1000 genomes]
rs12133309	1.00[EUR][1000 genomes]
rs12144939	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs13375443	1.00[CEU][hapmap]
rs13375567	1.00[CEU][hapmap]
rs16840379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840419	1.00[CHB][hapmap]
rs16840522	0.86[CHB][hapmap]
rs17573867	1.00[EUR][1000 genomes]
rs2183225	1.00[CEU][hapmap]
rs2335906	1.00[CEU][hapmap]
rs34683486	1.00[EUR][1000 genomes]
rs35229136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35836460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4314834	1.00[CEU][hapmap]
rs4507960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4515738	1.00[CEU][hapmap]
rs4625226	1.00[CEU][hapmap]
rs4658040	1.00[CEU][hapmap]
rs480266	0.82[ASN][1000 genomes]
rs481538	0.92[AFR][1000 genomes]
rs499807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508505	0.81[YRI][hapmap]
rs512900	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs520992	0.97[AFR][1000 genomes]
rs539917	0.82[ASN][1000 genomes]
rs558024	0.82[ASN][1000 genomes]
rs6428351	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6663649	1.00[CEU][hapmap]
rs6677604	0.86[CHB][hapmap]
rs6691524	0.83[EUR][1000 genomes]
rs7523548	1.00[EUR][1000 genomes]
rs7533533	1.00[CEU][hapmap]
rs7540922	1.00[CEU][hapmap]
rs7547724	1.00[CEU][hapmap]
rs7551203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944041	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv872960	chr1:196621221-196641257	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619800-196623800	Active TSS	K562	blood
2	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
6	chr1:196620400-196626000	Active TSS	Liver	Liver
7	chr1:196620600-196623000	Active TSS	Fetal Lung	lung
8	chr1:196620600-196623600	Active TSS	Fetal Muscle Leg	muscle
9	chr1:196620600-196623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:196620600-196623800	Active TSS	NHLF	lung
11	chr1:196620600-196624600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:196620800-196623200	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:196620800-196623400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:196620800-196623600	Active TSS	HSMM	muscle
15	chr1:196620800-196625000	Active TSS	Adipose Nuclei	Adipose
16	chr1:196621000-196623400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:196621000-196623600	Active TSS	Osteobl	bone
18	chr1:196621000-196625000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:196621400-196623000	Weak transcription	Psoas Muscle	Psoas
20	chr1:196621400-196623000	Active TSS	HUVEC	blood vessel
21	chr1:196621400-196623800	Active TSS	A549	lung
22	chr1:196621400-196623800	Weak transcription	Hela-S3	cervix
23	chr1:196621400-196624400	Weak transcription	Fetal Stomach	stomach
24	chr1:196621400-196630000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:196621800-196624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:196622000-196623800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:196622200-196623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:196622200-196623000	Active TSS	HSMMtube	muscle
29	chr1:196622400-196623800	Weak transcription	NH-A	brain
30	chr1:196622600-196625000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:196622800-196623200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:196622800-196624000	Active TSS	Brain Hippocampus Middle	brain
33	chr1:196622800-196624000	Flanking Active TSS	Dnd41	blood
34	chr1:196622800-196624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:196622800-196626200	Active TSS	Right Atrium	heart
36	chr1:196622800-196626400	Active TSS	Ovary	ovary

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