Variant report

Variant	rs11183838
Chromosome Location	chr12:47706703-47706704
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	chr12:47472933..47474719-chr12:47704915..47707748,2	K562	blood:
2	chr12:47703239..47704764-chr12:47704846..47707350,2	K562	blood:

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10881091	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11183840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12297968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47701600-47707800	Weak transcription	Pancreas	Pancrea
2	chr12:47701800-47706800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:47701800-47710400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:47702000-47710400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:47702000-47710400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:47702000-47710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:47704600-47710800	Enhancers	Liver	Liver
8	chr12:47705000-47708000	Enhancers	Fetal Intestine Large	intestine
9	chr12:47705200-47712200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:47705400-47712800	Weak transcription	Spleen	Spleen
11	chr12:47705800-47711000	Enhancers	Primary B cells from cord blood	blood
12	chr12:47706200-47707200	Enhancers	Fetal Intestine Small	intestine
13	chr12:47706400-47706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:47706400-47707400	Enhancers	GM12878-XiMat	blood
15	chr12:47706400-47707600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:47706400-47710400	Enhancers	A549	lung
17	chr12:47706600-47706800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:47706600-47706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:47706600-47706800	Enhancers	HepG2	liver
20	chr12:47706600-47707000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:47706600-47707200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:47706600-47707200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:47706600-47707200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:47706600-47707200	Enhancers	K562	blood

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