Variant report

Variant	rs11050206
Chromosome Location	chr12:29508484-29508485
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29502652..29504155-chr12:29507653..29509548,2	MCF-7	breast:
2	chr12:29499488..29501163-chr12:29507438..29509843,2	K562	blood:

Variant related genes	Relation type
ENSG00000087502	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10843374	0.86[ASN][1000 genomes]
rs10843379	0.86[ASN][1000 genomes]
rs10843380	0.86[ASN][1000 genomes]
rs10843381	0.86[ASN][1000 genomes]
rs10843386	1.00[ASN][1000 genomes]
rs10843389	1.00[ASN][1000 genomes]
rs10843392	0.93[ASN][1000 genomes]
rs10843394	0.93[ASN][1000 genomes]
rs11050178	0.86[ASN][1000 genomes]
rs11050179	0.86[ASN][1000 genomes]
rs11050180	0.86[ASN][1000 genomes]
rs11050204	1.00[ASN][1000 genomes]
rs11050207	0.93[ASN][1000 genomes]
rs12228116	1.00[ASN][1000 genomes]
rs12229024	0.86[ASN][1000 genomes]
rs12299290	1.00[ASN][1000 genomes]
rs12303490	0.86[ASN][1000 genomes]
rs12304963	0.86[ASN][1000 genomes]
rs12308135	0.86[ASN][1000 genomes]
rs12311282	0.86[ASN][1000 genomes]
rs16934213	0.93[ASN][1000 genomes]
rs28825120	0.86[ASN][1000 genomes]
rs7305232	1.00[ASN][1000 genomes]
rs9651841	0.93[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	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1796867	chr12:29501941-29524159	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
3	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
4	chr12:29473800-29522600	Weak transcription	NHEK	skin
5	chr12:29476200-29509400	Weak transcription	Spleen	Spleen
6	chr12:29476200-29512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
8	chr12:29476400-29509600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
14	chr12:29485600-29533400	Weak transcription	Gastric	stomach
15	chr12:29486800-29528600	Weak transcription	Psoas Muscle	Psoas
16	chr12:29487000-29533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:29488800-29532000	Weak transcription	NHLF	lung
18	chr12:29489600-29525600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:29489800-29510000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:29490000-29533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:29490000-29533400	Weak transcription	Esophagus	oesophagus
22	chr12:29490400-29524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:29491000-29511400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:29492400-29511800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:29492400-29518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:29492800-29511800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:29492800-29519000	Weak transcription	HepG2	liver
28	chr12:29493600-29532600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:29494400-29517800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:29494400-29532400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:29494600-29509000	Weak transcription	Lung	lung
32	chr12:29494600-29511800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:29494600-29532800	Weak transcription	Colonic Mucosa	Colon
34	chr12:29496400-29509200	Weak transcription	Left Ventricle	heart
35	chr12:29496400-29518000	Weak transcription	Brain Anterior Caudate	brain
36	chr12:29496400-29518000	Weak transcription	Thymus	Thymus
37	chr12:29496400-29532200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:29496600-29517800	Weak transcription	NH-A	brain
39	chr12:29496800-29508600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:29496800-29519000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:29497000-29509000	Weak transcription	HMEC	breast
42	chr12:29497400-29532400	Weak transcription	Fetal Heart	heart
43	chr12:29497600-29518200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:29498000-29515800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:29498800-29509000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:29499000-29532400	Weak transcription	Fetal Brain Female	brain
47	chr12:29499200-29510600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:29499200-29518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:29499200-29526600	Weak transcription	Stomach Mucosa	stomach
50	chr12:29499400-29509000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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