Variant report

Variant	rs2783501
Chromosome Location	chr1:93673636-93673637
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	chr1:93665864..93667749-chr1:93671794..93674252,2	K562	blood:
2	chr1:93672545..93674791-chr1:93676297..93678778,3	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1010476	0.95[CHB][hapmap]
rs1060622	0.86[CHB][hapmap]
rs10782955	0.82[ASN][1000 genomes]
rs10874764	0.82[ASN][1000 genomes]
rs11164870	0.87[CHB][hapmap]
rs11164876	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11164879	0.86[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs11164880	0.89[ASN][1000 genomes]
rs11164881	0.82[ASN][1000 genomes]
rs11164885	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11164897	0.94[EUR][1000 genomes]
rs11164908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12030549	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs12030843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12031709	0.94[EUR][1000 genomes]
rs12031765	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12033147	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs12038046	0.84[ASN][1000 genomes]
rs12038699	0.86[CHB][hapmap]
rs12044557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12044657	0.85[ASN][1000 genomes]
rs12044883	0.89[CHB][hapmap]
rs12048219	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12118230	0.80[ASN][1000 genomes]
rs12118262	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12124011	0.82[ASN][1000 genomes]
rs12128131	0.95[CHB][hapmap]
rs12130734	0.83[ASN][1000 genomes]
rs12133576	0.86[CHB][hapmap]
rs12138486	0.81[CEU][hapmap]
rs12405487	0.94[EUR][1000 genomes]
rs12406245	0.87[CHB][hapmap]
rs12563120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12566752	0.94[EUR][1000 genomes]
rs1335679	0.86[CHB][hapmap]
rs1426318	0.87[CHB][hapmap]
rs1474927	0.86[CHB][hapmap]
rs1537758	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1559828	0.86[CHB][hapmap]
rs1572343	0.86[CHB][hapmap]
rs17131709	0.82[YRI][hapmap]
rs1856027	0.82[CHB][hapmap]
rs1967721	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2031225	0.86[CHB][hapmap]
rs2031226	0.85[CHB][hapmap]
rs2255722	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2281524	0.95[CHB][hapmap]
rs2281525	0.86[CHB][hapmap]
rs2295423	0.86[CHB][hapmap]
rs2296558	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2391251	0.94[EUR][1000 genomes]
rs2391254	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs2484486	0.95[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2749732	0.90[CHB][hapmap]
rs2765545	0.80[ASN][1000 genomes]
rs2783489	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2783490	0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2783493	0.83[ASN][1000 genomes]
rs2783495	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2783496	0.85[ASN][1000 genomes]
rs2783497	0.85[ASN][1000 genomes]
rs2783499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2783505	0.86[ASN][1000 genomes]
rs2815406	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2815415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2815429	0.90[CHB][hapmap]
rs3754186	0.87[CHB][hapmap]
rs3767964	0.87[CHB][hapmap]
rs3904665	0.89[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3904666	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs4000699	0.87[CHB][hapmap]
rs4240966	0.86[CHB][hapmap]
rs4484937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4847235	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4847240	0.86[CHB][hapmap]
rs4847399	0.86[CHB][hapmap]
rs4847408	0.86[CHB][hapmap]
rs531358	0.86[CHB][hapmap]
rs58354545	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs612037	0.87[CHB][hapmap]
rs61266405	0.90[EUR][1000 genomes]
rs61799470	0.87[ASN][1000 genomes]
rs61799496	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61799500	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61799516	0.94[EUR][1000 genomes]
rs622608	0.86[CHB][hapmap]
rs637646	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs6541349	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[EUR][1000 genomes]
rs6541401	0.87[CHB][hapmap]
rs6541404	0.87[CHB][hapmap]
rs6676902	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682670	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs6684908	0.94[EUR][1000 genomes]
rs6703310	0.86[CHB][hapmap]
rs687394	0.92[CEU][hapmap];0.84[CHB][hapmap]
rs693737	0.86[CHB][hapmap]
rs72959220	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7513705	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7517363	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs7525248	0.91[CHB][hapmap]
rs7532195	0.83[ASN][1000 genomes]
rs7535628	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7539307	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7541687	0.82[ASN][1000 genomes]
rs771481	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs797668	0.87[CHB][hapmap]
rs797676	0.80[ASN][1000 genomes]
rs797680	0.87[CHB][hapmap]
rs810027	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs942196	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93647000-93756400	Weak transcription	Gastric	stomach
4	chr1:93647200-93681200	Weak transcription	HUVEC	blood vessel
5	chr1:93647200-93684400	Weak transcription	NH-A	brain
6	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:93649000-93684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:93651000-93684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:93651400-93678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:93654200-93708400	Weak transcription	Esophagus	oesophagus
14	chr1:93654600-93708000	Weak transcription	Ovary	ovary
15	chr1:93655200-93674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:93656400-93686200	Weak transcription	Aorta	Aorta
17	chr1:93657000-93682000	Strong transcription	Dnd41	blood
18	chr1:93657600-93708400	Weak transcription	Left Ventricle	heart
19	chr1:93658600-93684800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:93658800-93684400	Weak transcription	Osteobl	bone
21	chr1:93660600-93705200	Weak transcription	Lung	lung
22	chr1:93660800-93685000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:93661000-93674200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:93661400-93708200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:93661800-93702800	Weak transcription	Fetal Heart	heart
26	chr1:93661800-93708200	Weak transcription	Fetal Brain Female	brain
27	chr1:93663600-93705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:93665400-93684200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:93665400-93684400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:93665400-93685000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:93665400-93688800	Weak transcription	NHLF	lung
32	chr1:93665400-93708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:93665400-93708400	Weak transcription	Spleen	Spleen
34	chr1:93665600-93673800	Weak transcription	Thymus	Thymus
35	chr1:93665600-93683000	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:93665600-93697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:93665600-93702600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:93665600-93707800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:93665800-93674000	Weak transcription	Fetal Stomach	stomach
40	chr1:93665800-93684200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:93665800-93684400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:93665800-93693200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:93665800-93706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:93665800-93707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:93666200-93684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:93666800-93675800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:93667400-93674000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:93667400-93675600	Strong transcription	Fetal Thymus	thymus
50	chr1:93667400-93687600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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