Variant report

Variant	rs334716
Chromosome Location	chr1:61639503-61639504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61635699..61637979-chr1:61638572..61641332,3	K562	blood:
2	chr1:61635354..61638048-chr1:61638572..61641973,4	K562	blood:
3	chr1:61518111..61520949-chr1:61637413..61640142,2	K562	blood:
4	chr1:61637787..61640329-chr1:61641954..61643964,3	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12064543	0.93[EUR][1000 genomes]
rs12070080	0.93[EUR][1000 genomes]
rs17121598	0.93[EUR][1000 genomes]
rs2807991	0.93[EUR][1000 genomes]
rs334698	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334699	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334700	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334701	0.82[CEU][hapmap];0.82[GIH][hapmap];0.87[MKK][hapmap]
rs334703	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334704	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334705	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334706	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334708	0.82[CEU][hapmap]
rs334709	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334710	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs334712	0.82[CEU][hapmap]
rs334713	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334718	0.91[EUR][1000 genomes]
rs334719	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334721	0.90[EUR][1000 genomes]
rs334723	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];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334725	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334726	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334727	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334728	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334729	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs334730	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs334731	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs334732	1.00[JPT][hapmap]
rs334733	0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs334734	0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs334737	0.93[EUR][1000 genomes]
rs334739	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs3748543	0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs382704	1.00[JPT][hapmap]
rs395936	0.81[ASW][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs406412	0.81[ASW][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs440611	0.93[EUR][1000 genomes]
rs4546954	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4915586	0.93[EUR][1000 genomes]
rs4915728	1.00[JPT][hapmap]
rs6587912	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs694151	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs694161	1.00[JPT][hapmap];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008634	chr1:61613785-61671468	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
2	chr1:61619200-61649000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:61624600-61650400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:61634400-61640400	Enhancers	Brain Hippocampus Middle	brain
5	chr1:61635000-61641000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:61635000-61641800	Enhancers	Psoas Muscle	Psoas
7	chr1:61635200-61639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:61635600-61640400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:61635600-61640600	Enhancers	Fetal Heart	heart
10	chr1:61635600-61640800	Enhancers	Right Atrium	heart
11	chr1:61635600-61642200	Enhancers	Brain Substantia Nigra	brain
12	chr1:61635800-61639800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:61635800-61640000	Enhancers	Left Ventricle	heart
14	chr1:61635800-61640800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:61636000-61640400	Enhancers	Brain Angular Gyrus	brain
16	chr1:61636200-61644200	Weak transcription	Esophagus	oesophagus
17	chr1:61636200-61644200	Weak transcription	Gastric	stomach
18	chr1:61636200-61644200	Weak transcription	Pancreas	Pancrea
19	chr1:61636200-61648800	Weak transcription	Placenta	Placenta
20	chr1:61636200-61649000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:61636400-61639800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:61636400-61640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:61636600-61640400	Enhancers	Fetal Brain Female	brain
24	chr1:61636600-61644400	Weak transcription	Stomach Mucosa	stomach
25	chr1:61636600-61649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:61636600-61649200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:61636800-61639600	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:61636800-61647200	Weak transcription	A549	lung
29	chr1:61636800-61647200	Weak transcription	HUVEC	blood vessel
30	chr1:61637200-61640400	Enhancers	Adipose Nuclei	Adipose
31	chr1:61637200-61640800	Enhancers	Liver	Liver
32	chr1:61637400-61640600	Enhancers	Right Ventricle	heart
33	chr1:61637400-61649000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:61637600-61641600	Genic enhancers	K562	blood
35	chr1:61637600-61643600	Weak transcription	Ovary	ovary
36	chr1:61637600-61649000	Weak transcription	NHEK	skin
37	chr1:61637800-61649000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:61638000-61639600	Weak transcription	Fetal Brain Male	brain
39	chr1:61638000-61640000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:61638000-61640800	Enhancers	Brain Anterior Caudate	brain
41	chr1:61638000-61640800	Enhancers	Colon Smooth Muscle	Colon
42	chr1:61638000-61649800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:61638200-61650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:61638400-61639800	Weak transcription	Aorta	Aorta
45	chr1:61638400-61640000	Weak transcription	Brain Germinal Matrix	brain
46	chr1:61638400-61648800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:61638800-61639600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:61638800-61639800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:61638800-61640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:61638800-61641400	Weak transcription	Fetal Lung	lung

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