Variant report

Variant	rs12275185
Chromosome Location	chr11:102272277-102272278
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102271373..102273444-chr11:102275358..102277097,2	K562	blood:
2	chr11:102266647..102268890-chr11:102271268..102274135,2	MCF-7	breast:
3	chr11:102267303..102269917-chr11:102272056..102274983,3	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10219215	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap]
rs1058606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895292	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895293	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10895296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11225222	1.00[ASN][1000 genomes]
rs11225229	1.00[ASN][1000 genomes]
rs11225235	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225236	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225242	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs11225243	1.00[EUR][1000 genomes]
rs11225244	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11225247	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs11225251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501342	1.00[ASN][1000 genomes]
rs11501343	1.00[ASN][1000 genomes]
rs11501344	1.00[ASN][1000 genomes]
rs11547915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601671	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603677	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604271	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605573	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[ASN][1000 genomes]
rs11607657	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269847	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12271457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271900	0.98[EUR][1000 genomes]
rs12273698	1.00[ASN][1000 genomes]
rs12274405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275349	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs12277594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277747	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12277853	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282486	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283885	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290033	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291114	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12293834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1317775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1318199	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377311	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574410	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349689	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs1943781	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2436036	1.00[CHB][hapmap]
rs2510491	1.00[ASN][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	1.00[ASN][1000 genomes]
rs35972941	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs525305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs531350	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs57346058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58250524	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056981	0.98[EUR][1000 genomes]
rs61123589	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61334418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[ASN][1000 genomes]
rs61895376	1.00[ASN][1000 genomes]
rs637708	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs660908	1.00[CHB][hapmap]
rs670334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7104841	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113906	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114048	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:102245600-102275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:102245800-102275000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:102246000-102278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:102246200-102274400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:102246800-102277800	Weak transcription	Stomach Mucosa	stomach
11	chr11:102247400-102275400	Strong transcription	Primary B cells from cord blood	blood
12	chr11:102255600-102274800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:102257800-102277800	Strong transcription	Fetal Thymus	thymus
14	chr11:102261200-102275000	Strong transcription	Fetal Intestine Large	intestine
15	chr11:102261200-102275400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:102261400-102274600	Strong transcription	Dnd41	blood
17	chr11:102261400-102275400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:102261600-102274800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:102261800-102272800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:102261800-102272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:102261800-102273400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:102261800-102281000	Weak transcription	K562	blood
23	chr11:102262000-102273000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:102262000-102274800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:102262000-102277400	Strong transcription	Adipose Nuclei	Adipose
26	chr11:102262200-102272800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:102262400-102273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:102262600-102274600	Strong transcription	Liver	Liver
29	chr11:102263800-102273000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:102263800-102273800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:102264000-102272800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:102264000-102277000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:102264400-102276800	Weak transcription	Aorta	Aorta
34	chr11:102264400-102279000	Weak transcription	Fetal Brain Male	brain
35	chr11:102264600-102272800	Weak transcription	Esophagus	oesophagus
36	chr11:102264600-102273800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:102264600-102276800	Weak transcription	Gastric	stomach
38	chr11:102264600-102279200	Weak transcription	Ovary	ovary
39	chr11:102264600-102281400	Weak transcription	Right Ventricle	heart
40	chr11:102264800-102276800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:102265000-102276800	Weak transcription	Lung	lung
42	chr11:102265000-102276800	Weak transcription	Spleen	Spleen
43	chr11:102265000-102287800	Weak transcription	Psoas Muscle	Psoas
44	chr11:102265000-102290800	Weak transcription	Small Intestine	intestine
45	chr11:102265400-102276000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:102265400-102276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:102265400-102281000	Weak transcription	Pancreas	Pancrea
48	chr11:102266000-102281000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:102266400-102273000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:102266400-102273200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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