Variant report

Variant	rs1452261
Chromosome Location	chr12:45048808-45048809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10506253	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs10506254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10506255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785516	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10880662	0.92[EUR][1000 genomes]
rs10880663	0.87[EUR][1000 genomes]
rs11182607	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182608	1.00[CEU][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11182617	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs11182622	0.89[EUR][1000 genomes]
rs11182633	0.85[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs11609932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11615822	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579312	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12580824	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12812313	0.88[EUR][1000 genomes]
rs12812412	0.84[JPT][hapmap]
rs12817968	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12818520	0.84[JPT][hapmap]
rs12820225	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12825403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12827088	0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs12827992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12830054	0.88[EUR][1000 genomes]
rs12830788	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1450538	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.86[LWK][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1452259	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1452260	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][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]
rs1517205	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1562965	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1597808	0.99[EUR][1000 genomes]
rs17571851	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs17572194	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs17573326	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17573382	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574950	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17575124	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17575145	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17651444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17651576	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17652016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17652045	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17652213	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17652890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1869161	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2122530	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290353	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290354	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290355	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2305449	0.85[TSI][hapmap]
rs33995718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34059115	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34354933	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34500282	0.81[EUR][1000 genomes]
rs34560815	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775637	0.84[EUR][1000 genomes]
rs34882841	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34985115	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35051815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35180883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35889925	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35934410	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35977363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36054479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4362200	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55841784	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55996511	1.00[ASN][1000 genomes]
rs57004692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57933837	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59379685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61932363	0.81[EUR][1000 genomes]
rs61932405	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66572050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73098383	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953273	0.88[EUR][1000 genomes]
rs7971322	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971937	0.88[EUR][1000 genomes]
rs7978549	1.00[CEU][hapmap];0.99[EUR][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:35 , 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	chr12:45047800-45049200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:45047800-45049400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:45047800-45049400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:45047800-45049400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:45047800-45049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:45047800-45050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:45047800-45050200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:45047800-45050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:45048000-45050000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:45048000-45050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:45048200-45049400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:45048200-45049400	Enhancers	Fetal Heart	heart
21	chr12:45048200-45050000	Enhancers	Fetal Intestine Small	intestine
22	chr12:45048200-45050200	Enhancers	Fetal Intestine Large	intestine
23	chr12:45048400-45049200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:45048400-45049200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:45048400-45049200	Enhancers	Brain Hippocampus Middle	brain
26	chr12:45048400-45049200	Enhancers	Fetal Lung	lung
27	chr12:45048400-45049400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:45048400-45049400	Enhancers	Fetal Stomach	stomach
29	chr12:45048400-45049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:45048600-45049000	Flanking Active TSS	Fetal Brain Female	brain
31	chr12:45048600-45049200	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:45048600-45049400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:45048600-45049600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:45048800-45050000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:45048800-45053600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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