Variant report

Variant	rs315548
Chromosome Location	chr1:84831754-84831755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84814848..84816393-chr1:84831127..84833005,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1067072	0.99[ASN][1000 genomes]
rs12034653	0.81[AMR][1000 genomes]
rs1246546	0.90[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs1246549	0.90[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs1246550	0.90[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs160612	0.90[ASN][1000 genomes]
rs1690702	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1699157	0.91[ASN][1000 genomes]
rs170278	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs172735	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs178367	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs178368	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315520	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs315521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315524	1.00[ASN][1000 genomes]
rs315525	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs315526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315527	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315528	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs315530	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315531	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315532	0.91[ASN][1000 genomes]
rs315533	0.92[ASN][1000 genomes]
rs315535	0.93[ASN][1000 genomes]
rs315536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315538	1.00[ASN][1000 genomes]
rs315539	0.92[ASN][1000 genomes]
rs315540	0.90[ASN][1000 genomes]
rs315543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315547	0.93[ASN][1000 genomes]
rs315549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315552	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315553	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs315555	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs315556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316644	0.81[CHD][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs316660	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316661	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316663	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316665	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs487220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592464	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786653	0.93[ASN][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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84828400-84836400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84829200-84832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:84829800-84836800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:84829800-84840400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:84830200-84833200	Enhancers	HUVEC	blood vessel
6	chr1:84830400-84832000	Enhancers	NHEK	skin
7	chr1:84830800-84832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:84830800-84832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:84830800-84832600	Enhancers	HMEC	breast
10	chr1:84830800-84832600	Enhancers	NH-A	brain
11	chr1:84830800-84832800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:84830800-84832800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:84830800-84833000	Enhancers	HSMM	muscle
14	chr1:84830800-84833200	Enhancers	Osteobl	bone
15	chr1:84830800-84833400	Enhancers	NHDF-Ad	bronchial
16	chr1:84830800-84833400	Enhancers	NHLF	lung
17	chr1:84830800-84833600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:84830800-84833600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:84831000-84831800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:84831000-84831800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:84831000-84832000	Enhancers	Small Intestine	intestine
22	chr1:84831000-84832200	Enhancers	K562	blood
23	chr1:84831000-84832400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:84831000-84832400	Enhancers	Fetal Intestine Small	intestine
25	chr1:84831000-84832400	Enhancers	Stomach Mucosa	stomach
26	chr1:84831000-84833000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:84831000-84833200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:84831000-84833200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:84831000-84838000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:84831200-84831800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:84831200-84833200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:84831200-84836400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:84831400-84831800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:84831400-84831800	Flanking Active TSS	A549	lung
35	chr1:84831400-84832000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:84831400-84832000	Enhancers	Pancreas	Pancrea
37	chr1:84831400-84832000	Enhancers	HSMMtube	muscle
38	chr1:84831400-84832600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:84831600-84831800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:84831600-84832000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:84831600-84832000	Enhancers	Fetal Intestine Large	intestine
42	chr1:84831600-84832000	Enhancers	Gastric	stomach
43	chr1:84831600-84832000	Enhancers	Lung	lung
44	chr1:84831600-84832000	Enhancers	Psoas Muscle	Psoas
45	chr1:84831600-84832000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:84831600-84832000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:84831600-84832000	Flanking Active TSS	Hela-S3	cervix
48	chr1:84831600-84832200	Enhancers	Placenta	Placenta
49	chr1:84831600-84832400	Enhancers	Adipose Nuclei	Adipose
50	chr1:84831600-84832600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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