Variant report

Variant	rs1992522
Chromosome Location	chr3:105544863-105544864
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	chr3:105539575..105542989-chr3:105543009..105546955,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10804442	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10933833	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11711088	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924742	0.81[CEU][hapmap]
rs12636287	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13060223	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13085563	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13100446	0.92[AMR][1000 genomes]
rs1443102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1470283	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1550711	0.82[YRI][hapmap]
rs1867191	0.82[YRI][hapmap]
rs1867195	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2055557	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099892	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2399056	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28427229	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28533328	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821489	0.83[CHB][hapmap]
rs3996189	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243427	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4447799	0.93[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4894950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894953	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4894957	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4894960	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4894962	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6437624	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6788366	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6795961	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6807382	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71627856	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7432372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7637327	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7645021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7647955	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7651784	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs769315	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs971110	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9841500	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[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	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
4	chr3:105521200-105546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
6	chr3:105529000-105546600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:105531400-105546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:105531600-105546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:105533800-105570000	Weak transcription	Dnd41	blood
12	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:105534400-105546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
15	chr3:105537800-105546800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:105538800-105545000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:105539200-105546200	Weak transcription	Esophagus	oesophagus
18	chr3:105539400-105551600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:105540400-105545000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
21	chr3:105541000-105554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:105541400-105548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:105541800-105553600	Weak transcription	Fetal Brain Female	brain
24	chr3:105542200-105546400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:105542200-105553600	Weak transcription	Liver	Liver
26	chr3:105542200-105554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:105542400-105548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:105542600-105546200	Weak transcription	GM12878-XiMat	blood
29	chr3:105542600-105548200	Weak transcription	Pancreas	Pancrea
30	chr3:105542600-105555400	Weak transcription	Brain Angular Gyrus	brain
31	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
32	chr3:105542800-105545600	Strong transcription	Primary B cells from cord blood	blood
33	chr3:105542800-105546400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:105542800-105546800	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:105542800-105554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:105543000-105546400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:105543000-105546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:105543000-105555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:105543200-105546000	Weak transcription	Adipose Nuclei	Adipose
40	chr3:105543200-105546200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:105543200-105546400	Weak transcription	Right Atrium	heart
42	chr3:105543200-105546400	Weak transcription	HUVEC	blood vessel
43	chr3:105543200-105546600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr3:105543200-105546600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:105543200-105548400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:105543200-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:105543200-105551600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:105543400-105546000	Weak transcription	A549	lung
49	chr3:105543400-105546200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:105543400-105546200	Weak transcription	K562	blood

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