Variant report

Variant	rs2774947
Chromosome Location	chr1:93348423-93348424
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	chr1:93347932..93348855-chr3:136601084..136601683,2	NB4	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10218670	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs10735783	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10735784	0.80[EUR][1000 genomes]
rs10782942	0.80[EUR][1000 genomes]
rs11164804	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11164805	0.80[EUR][1000 genomes]
rs11164808	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11164809	0.80[EUR][1000 genomes]
rs11164812	0.84[EUR][1000 genomes]
rs11164813	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11164845	1.00[JPT][hapmap]
rs1182632	0.87[EUR][1000 genomes]
rs1182633	0.87[EUR][1000 genomes]
rs1182636	0.87[EUR][1000 genomes]
rs1182639	0.87[EUR][1000 genomes]
rs1182640	0.80[EUR][1000 genomes]
rs12029026	0.84[ASN][1000 genomes]
rs1337108	0.80[EUR][1000 genomes]
rs1337109	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1411706	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1610319	0.83[EUR][1000 genomes]
rs1932967	0.80[EUR][1000 genomes]
rs2008797	0.87[EUR][1000 genomes]
rs2025101	0.80[EUR][1000 genomes]
rs2065916	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs2107520	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2107521	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2158446	0.88[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2180977	0.80[EUR][1000 genomes]
rs2244005	0.90[ASN][1000 genomes]
rs2244496	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298912	0.80[EUR][1000 genomes]
rs2391194	0.80[EUR][1000 genomes]
rs2391196	0.88[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2391199	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs2391200	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2774940	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774941	0.89[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2774943	0.90[ASN][1000 genomes]
rs2811599	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811602	1.00[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989014	0.90[ASN][1000 genomes]
rs35054144	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3790444	1.00[JPT][hapmap]
rs3790445	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3790446	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4264007	0.80[EUR][1000 genomes]
rs4525050	0.80[EUR][1000 genomes]
rs4638137	0.80[EUR][1000 genomes]
rs4847217	0.80[EUR][1000 genomes]
rs4847266	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs4847285	0.80[EUR][1000 genomes]
rs4847304	0.80[EUR][1000 genomes]
rs4847309	0.80[EUR][1000 genomes]
rs4847310	0.80[EUR][1000 genomes]
rs4847363	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4847370	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6604010	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6604012	0.80[EUR][1000 genomes]
rs6604015	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6604018	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6604022	0.80[EUR][1000 genomes]
rs6660296	0.80[EUR][1000 genomes]
rs6661600	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6665579	0.80[EUR][1000 genomes]
rs6671421	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs6676454	0.80[EUR][1000 genomes]
rs6685705	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6693371	0.84[EUR][1000 genomes]
rs6696636	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs6703467	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs723909	0.80[EUR][1000 genomes]
rs72728629	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513815	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7516141	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7521345	0.80[EUR][1000 genomes]
rs7526582	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7532731	0.87[EUR][1000 genomes]
rs7540407	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7543327	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7543964	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549844	0.88[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7551340	0.89[ASN][1000 genomes]
rs7551880	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7552085	0.80[EUR][1000 genomes]
rs7554868	0.80[EUR][1000 genomes]
rs757469	0.80[EUR][1000 genomes]
rs927339	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs932637	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs9439920	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9439924	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs976208	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs976209	0.80[EUR][1000 genomes]
rs980940	0.80[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
2	chr1:93333000-93348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:93336400-93348800	Weak transcription	Left Ventricle	heart
4	chr1:93336600-93349200	Weak transcription	HepG2	liver
5	chr1:93339000-93352600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:93340800-93348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:93340800-93351600	Weak transcription	Small Intestine	intestine
8	chr1:93343800-93348600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:93344600-93351400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:93345600-93348600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:93345600-93350000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:93347000-93350000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:93347400-93348600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:93347800-93350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:93347800-93350400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:93347800-93351000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:93348000-93349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:93348000-93349800	Enhancers	Primary B cells from cord blood	blood
19	chr1:93348000-93349800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:93348000-93350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:93348000-93350000	Enhancers	Thymus	Thymus
22	chr1:93348000-93350800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:93348000-93351000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:93348200-93349000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:93348200-93349200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:93348200-93349400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:93348200-93349400	Flanking Active TSS	Dnd41	blood
28	chr1:93348200-93349400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:93348200-93349600	Enhancers	Fetal Thymus	thymus
30	chr1:93348200-93349800	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:93348400-93348600	Enhancers	HMEC	breast
32	chr1:93348400-93348800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:93348400-93348800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:93348400-93348800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:93348400-93348800	Enhancers	Brain Cingulate Gyrus	brain
36	chr1:93348400-93348800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr1:93348400-93348800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:93348400-93348800	Enhancers	NH-A	brain
39	chr1:93348400-93348800	Enhancers	Osteobl	bone
40	chr1:93348400-93349000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:93348400-93349000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:93348400-93349200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:93348400-93349200	Enhancers	Brain Substantia Nigra	brain
44	chr1:93348400-93349200	Enhancers	GM12878-XiMat	blood
45	chr1:93348400-93349200	Enhancers	NHEK	skin
46	chr1:93348400-93349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:93348400-93349400	Enhancers	Brain Anterior Caudate	brain
48	chr1:93348400-93349600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:93348400-93349600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:93348400-93350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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