Variant report

Variant	rs9971875
Chromosome Location	chr12:32829864-32829865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32828853..32831333-chr12:32832241..32833877,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1020670	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10771974	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10771975	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10771977	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771978	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771984	1.00[JPT][hapmap]
rs10844273	0.98[ASN][1000 genomes]
rs10844274	0.98[ASN][1000 genomes]
rs10844276	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844277	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844278	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844280	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844281	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844283	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10844286	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844300	1.00[JPT][hapmap]
rs10844301	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844302	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844304	0.82[CHB][hapmap]
rs10844305	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844306	1.00[JPT][hapmap]
rs10844307	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844308	1.00[JPT][hapmap]
rs10844309	1.00[JPT][hapmap]
rs10844318	1.00[JPT][hapmap]
rs10844324	1.00[JPT][hapmap]
rs10844328	1.00[JPT][hapmap]
rs10844330	1.00[JPT][hapmap]
rs10844332	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844335	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10844337	1.00[JPT][hapmap]
rs11052131	0.96[ASN][1000 genomes]
rs11052132	0.94[ASN][1000 genomes]
rs11052133	0.98[ASN][1000 genomes]
rs11052135	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11052137	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052138	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052139	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052140	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052143	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052144	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052145	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052146	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052148	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052152	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052168	1.00[JPT][hapmap]
rs11052176	1.00[JPT][hapmap]
rs11052177	1.00[JPT][hapmap]
rs11052178	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052179	1.00[JPT][hapmap]
rs11052180	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052181	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052182	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052183	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052188	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052189	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052190	0.83[EUR][1000 genomes]
rs11052191	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052197	1.00[JPT][hapmap]
rs11052198	1.00[JPT][hapmap]
rs11052199	1.00[JPT][hapmap]
rs11052202	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11052210	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052211	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11052214	1.00[JPT][hapmap]
rs11829963	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11831711	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11831712	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11834855	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11837120	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12298252	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12303123	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303164	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303426	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12303953	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12304039	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307480	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12307536	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12310263	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310477	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317270	1.00[JPT][hapmap]
rs12322199	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322258	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12368935	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369487	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12372562	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372569	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12578124	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578138	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579125	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581955	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810331	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12810355	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810650	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12828920	0.85[ASN][1000 genomes]
rs12830610	0.85[ASN][1000 genomes]
rs1971911	1.00[JPT][hapmap]
rs2030747	1.00[JPT][hapmap]
rs2124150	0.82[CHB][hapmap]
rs2272238	0.82[CHB][hapmap]
rs28621557	0.94[ASN][1000 genomes]
rs3200103	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs36008752	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506737	0.85[CHB][hapmap]
rs4539413	1.00[JPT][hapmap]
rs4931032	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931033	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931034	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931035	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931036	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931649	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945230	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57627995	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61450261	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488074	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488075	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6488080	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs66895109	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132486	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135097	1.00[JPT][hapmap]
rs7135667	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135806	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295930	0.94[ASN][1000 genomes]
rs7298030	1.00[JPT][hapmap]
rs7301868	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301985	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303018	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7306406	1.00[JPT][hapmap]
rs7309751	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309894	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310136	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7310437	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7312162	1.00[ASN][1000 genomes]
rs7312580	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316283	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952928	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7955582	0.82[CHB][hapmap]
rs7958243	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7966735	0.82[EUR][1000 genomes]
rs7968325	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7971671	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7980752	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs977542	1.00[JPT][hapmap]
rs9971640	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9971662	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9971708	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32824800-32831800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32825600-32831800	Weak transcription	Fetal Thymus	thymus
3	chr12:32825800-32831800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:32826000-32831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:32826000-32831800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:32826000-32831800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:32827000-32831800	Enhancers	Placenta	Placenta
8	chr12:32827400-32831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:32828000-32831800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:32828000-32832000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:32828200-32831800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:32828200-32831800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:32828400-32831800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:32828400-32831800	Weak transcription	GM12878-XiMat	blood
15	chr12:32828400-32832000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:32828600-32831400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:32828600-32831800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:32828800-32830800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:32829000-32831800	Weak transcription	Right Atrium	heart
20	chr12:32829600-32831800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:32829600-32831800	Weak transcription	Colonic Mucosa	Colon
22	chr12:32829800-32830000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:32829800-32830000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:32829800-32830000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:32829800-32830200	Flanking Active TSS	HepG2	liver

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