Variant report

Variant	rs11183248
Chromosome Location	chr12:46354633-46354634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46348656..46350244-chr12:46353257..46355450,2	MCF-7	breast:
2	chr12:46353562..46359244-chr12:46361441..46367398,6	K562	blood:
3	chr12:46348001..46351847-chr12:46352857..46355917,3	K562	blood:
4	chr12:46351854..46356298-chr12:46382487..46386006,5	MCF-7	breast:
5	chr12:46354572..46357649-chr12:46367674..46371210,4	K562	blood:

Variant related genes	Relation type
ENSG00000139218	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10161062	0.90[YRI][hapmap]
rs10161510	0.83[YRI][hapmap]
rs10161536	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506264	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10880858	0.93[YRI][hapmap]
rs11574971	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296933	0.93[YRI][hapmap]
rs12298184	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309988	0.93[YRI][hapmap]
rs12314576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1549591	1.00[EUR][1000 genomes]
rs15852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096316	1.00[EUR][1000 genomes]
rs61009645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582575	0.93[YRI][hapmap]
rs6582580	1.00[EUR][1000 genomes]
rs7133123	0.93[YRI][hapmap]
rs7296694	1.00[YRI][hapmap]
rs7303119	0.80[YRI][hapmap]
rs7304785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306774	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308893	0.93[YRI][hapmap]
rs7310702	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081611	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964495	0.80[YRI][hapmap]
rs7965539	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970212	1.00[EUR][1000 genomes]
rs7970367	1.00[EUR][1000 genomes]
rs7971936	1.00[EUR][1000 genomes]
rs7972499	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973967	0.82[YRI][hapmap]
rs7975408	0.93[YRI][hapmap]

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	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv3439887	chr12:46337377-46370366	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46319200-46362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:46322600-46360200	Weak transcription	Fetal Brain Male	brain
4	chr12:46326600-46360400	Weak transcription	Small Intestine	intestine
5	chr12:46329800-46371000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:46330400-46358800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:46338200-46356000	Weak transcription	Fetal Brain Female	brain
8	chr12:46338800-46359800	Weak transcription	Brain Angular Gyrus	brain
9	chr12:46338800-46360000	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:46338800-46360000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:46340000-46356600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:46341600-46355200	Weak transcription	HMEC	breast
13	chr12:46341800-46365600	Weak transcription	K562	blood
14	chr12:46342000-46355200	Weak transcription	Esophagus	oesophagus
15	chr12:46342000-46356600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:46342000-46358400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:46342000-46360400	Weak transcription	Ovary	ovary
18	chr12:46342000-46360800	Weak transcription	Lung	lung
19	chr12:46342000-46362400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:46342000-46362400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:46342000-46362400	Weak transcription	Pancreas	Pancrea
22	chr12:46342000-46363000	Weak transcription	Fetal Stomach	stomach
23	chr12:46342000-46364000	Weak transcription	Gastric	stomach
24	chr12:46342200-46356200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:46342200-46356600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:46342200-46358800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:46342200-46359200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:46342200-46359800	Weak transcription	NHLF	lung
29	chr12:46342200-46360200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:46342200-46361000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:46342200-46365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:46342200-46369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:46342400-46355000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:46342400-46360200	Weak transcription	Colonic Mucosa	Colon
35	chr12:46342600-46355600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:46342600-46355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:46342600-46355600	Weak transcription	HUVEC	blood vessel
38	chr12:46342600-46356400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:46342800-46355600	Weak transcription	NH-A	brain
40	chr12:46342800-46356600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:46342800-46361400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:46342800-46362400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:46343000-46355000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:46343000-46355000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:46343000-46375000	Weak transcription	NHEK	skin
46	chr12:46344000-46355800	Weak transcription	Hela-S3	cervix
47	chr12:46344000-46356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:46344200-46355400	Weak transcription	Fetal Lung	lung
49	chr12:46344200-46356600	Weak transcription	HepG2	liver
50	chr12:46344200-46356800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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