Variant report

Variant	rs11610452
Chromosome Location	chr12:30905152-30905153
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	chr12:30902650..30905580-chr12:30906095..30908998,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10743725	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843794	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843797	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843798	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843803	0.82[EUR][1000 genomes]
rs10843805	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051009	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051023	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051026	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051030	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051034	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051044	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051046	1.00[ASN][1000 genomes]
rs12306961	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308822	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310942	1.00[ASN][1000 genomes]
rs12315407	0.82[AMR][1000 genomes]
rs12315446	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12371883	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372023	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099028	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906774	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56705455	0.82[AMR][1000 genomes]
rs59483134	0.85[ASN][1000 genomes]
rs6487924	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487929	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487931	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135005	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302606	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7302757	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303665	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306125	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307432	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308638	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310127	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7315859	0.88[ASN][1000 genomes]
rs73292874	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74083892	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963438	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963524	0.94[ASN][1000 genomes]
rs7968669	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968760	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9651844	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
3	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
4	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:30879800-30905800	Weak transcription	NHLF	lung
10	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
11	chr12:30882200-30905600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:30882200-30905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:30882200-30906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:30882200-30906400	Weak transcription	Lung	lung
15	chr12:30882200-30906400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:30882200-30906600	Weak transcription	Placenta	Placenta
17	chr12:30882200-30906800	Weak transcription	Esophagus	oesophagus
18	chr12:30882400-30905400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:30882400-30906600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:30882600-30905400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:30882600-30906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:30882600-30906400	Weak transcription	Right Ventricle	heart
23	chr12:30882800-30906800	Weak transcription	Gastric	stomach
24	chr12:30883200-30905800	Weak transcription	HSMMtube	muscle
25	chr12:30883200-30906400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:30884800-30905800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:30885000-30905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:30886600-30906400	Weak transcription	Brain Substantia Nigra	brain
29	chr12:30886800-30905800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:30888400-30906800	Weak transcription	Fetal Intestine Large	intestine
31	chr12:30889200-30905800	Weak transcription	Fetal Stomach	stomach
32	chr12:30889200-30906200	Weak transcription	Thymus	Thymus
33	chr12:30892400-30906400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:30892400-30906400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:30892600-30906400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:30894000-30905600	Weak transcription	Dnd41	blood
37	chr12:30894800-30906400	Weak transcription	Stomach Mucosa	stomach
38	chr12:30897200-30905600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:30897200-30906600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:30897600-30905200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:30899600-30906600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:30900000-30905200	Weak transcription	Brain Anterior Caudate	brain
43	chr12:30900000-30905600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:30900000-30906200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:30900000-30906200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:30900000-30906200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:30900000-30906400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:30900000-30906400	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:30900000-30906600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:30900000-30906600	Weak transcription	Rectal Mucosa Donor 31	rectum

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