Variant report

Variant	rs1563043
Chromosome Location	chr12:45049589-45049590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1037433	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1037434	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10506256	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10748400	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785515	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880655	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10880657	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880658	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880659	0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880660	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10880666	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs10880673	0.85[EUR][1000 genomes]
rs11182552	0.84[YRI][hapmap]
rs11182559	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182560	0.83[YRI][hapmap]
rs11182562	0.86[YRI][hapmap]
rs11182596	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11182599	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11182634	0.84[EUR][1000 genomes]
rs11182635	0.85[EUR][1000 genomes]
rs11182636	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs11182640	0.84[EUR][1000 genomes]
rs12303497	0.82[EUR][1000 genomes]
rs12312100	0.83[EUR][1000 genomes]
rs12812414	0.80[ASN][1000 genomes]
rs12815257	0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1850406	0.80[ASN][1000 genomes]
rs1869162	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1966855	0.82[EUR][1000 genomes]
rs2060839	0.85[YRI][hapmap]
rs2060840	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2060841	0.85[YRI][hapmap]
rs2060842	0.85[YRI][hapmap]
rs2060895	0.84[YRI][hapmap]
rs2060896	0.83[YRI][hapmap]
rs2084843	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305448	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4544065	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768066	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768563	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768564	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs581473	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs583575	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs605722	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615760	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs628408	0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs632481	0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs636843	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6582509	0.83[YRI][hapmap]
rs678663	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs688669	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7295999	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7299365	0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7300005	0.83[YRI][hapmap]
rs7301539	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7308509	0.96[CEU][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7310844	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7314643	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs765769	0.82[EUR][1000 genomes]
rs7958389	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7958608	0.83[YRI][hapmap]
rs7968076	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970849	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs838973	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs966383	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978540	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2762978	chr12:45042460-45051490	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:45043800-45054000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45046600-45050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45047200-45050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:45047400-45050600	Enhancers	Fetal Brain Male	brain
8	chr12:45047600-45050400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:45047800-45050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:45047800-45050200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:45047800-45050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:45048000-45050000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:45048000-45050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:45048200-45050000	Enhancers	Fetal Intestine Small	intestine
15	chr12:45048200-45050200	Enhancers	Fetal Intestine Large	intestine
16	chr12:45048400-45049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:45048600-45049600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:45048800-45050000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:45048800-45053600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:45049200-45049600	Weak transcription	Fetal Brain Female	brain
21	chr12:45049400-45069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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