Variant report

Variant	rs11058602
Chromosome Location	chr12:123016738-123016739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123015754..123018125-chr12:123716454..123718902,2	K562	blood:
2	chr12:122984970..122986643-chr12:123016494..123019420,2	MCF-7	breast:
3	chr12:123011807..123016958-chr12:123025504..123030876,9	K562	blood:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1021705	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10846993	0.82[AMR][1000 genomes]
rs10847141	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10847169	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847170	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847234	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10847298	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10847329	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11058562	0.85[AMR][1000 genomes]
rs11058710	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058797	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11058839	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058840	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11058862	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11059000	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611668	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11612869	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12370850	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12817342	0.82[AMR][1000 genomes]
rs2062505	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34864383	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803004	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4579965	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61956121	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7398861	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7398939	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123022000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:123012400-123029400	Weak transcription	Ovary	ovary
3	chr12:123012400-123035000	Weak transcription	Lung	lung
4	chr12:123012400-123036600	Weak transcription	Esophagus	oesophagus
5	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
8	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
9	chr12:123012600-123017400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:123012600-123017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:123012600-123018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:123012600-123019400	Weak transcription	Placenta	Placenta
13	chr12:123012600-123021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:123012600-123024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:123012600-123031600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:123012600-123032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:123012600-123036600	Weak transcription	Left Ventricle	heart
18	chr12:123012600-123042600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
20	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:123012800-123018600	Weak transcription	Fetal Intestine Large	intestine
22	chr12:123012800-123020200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:123012800-123021400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:123012800-123027600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:123012800-123032000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:123012800-123032000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:123012800-123036200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:123012800-123036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:123012800-123037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:123012800-123037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:123012800-123042000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:123012800-123042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:123013000-123017000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:123013000-123017200	Weak transcription	NH-A	brain
38	chr12:123013000-123017800	Weak transcription	Fetal Intestine Small	intestine
39	chr12:123013000-123017800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:123013000-123018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:123013000-123021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:123013000-123021400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:123013000-123021400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:123013000-123021400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:123013000-123029400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:123013000-123029400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:123013000-123030800	Weak transcription	Adipose Nuclei	Adipose
48	chr12:123013000-123030800	Weak transcription	Fetal Lung	lung
49	chr12:123013000-123031800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:123013000-123037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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