Variant report

Variant	rs11054440
Chromosome Location	chr12:11895412-11895413
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11832161	1.00[AMR][1000 genomes]
rs12302332	1.00[AMR][1000 genomes]
rs12310301	1.00[AMR][1000 genomes]
rs12318734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319475	1.00[AMR][1000 genomes]
rs13377739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16907150	1.00[AMR][1000 genomes]
rs16907207	0.82[AFR][1000 genomes]
rs16907214	0.88[AFR][1000 genomes]
rs59746341	1.00[AMR][1000 genomes]
rs72550772	1.00[AMR][1000 genomes]
rs7308701	1.00[AMR][1000 genomes]
rs73286656	1.00[AMR][1000 genomes]
rs9971847	1.00[AMR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:11880400-11896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:11880600-11896400	Weak transcription	Fetal Stomach	stomach
5	chr12:11882400-11899200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:11882400-11902600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:11882400-11903200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:11883600-11896200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:11883800-11906000	Weak transcription	Liver	Liver
10	chr12:11884200-11896200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:11884200-11899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11885200-11906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:11885600-11898600	Weak transcription	Primary T cells from cord blood	blood
14	chr12:11885600-11899000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:11885600-11905200	Weak transcription	Fetal Intestine Large	intestine
16	chr12:11885800-11896800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:11885800-11898400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:11886000-11900000	Weak transcription	Colonic Mucosa	Colon
20	chr12:11886800-11897800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:11887800-11896400	Weak transcription	Dnd41	blood
22	chr12:11889800-11896800	Weak transcription	Fetal Kidney	kidney
23	chr12:11889800-11901800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:11890000-11902400	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:11891200-11896000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:11891600-11896000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:11892000-11896400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:11892400-11896800	Weak transcription	Right Ventricle	heart
29	chr12:11892400-11898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:11892600-11896600	Enhancers	Stomach Mucosa	stomach
31	chr12:11893000-11896800	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:11893400-11896400	Genic enhancers	GM12878-XiMat	blood
34	chr12:11893600-11897800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:11893800-11896400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:11893800-11901200	Enhancers	HMEC	breast
37	chr12:11894000-11896400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:11894200-11896200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:11894400-11896800	Weak transcription	Fetal Brain Male	brain
40	chr12:11894400-11897800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:11894400-11898800	Weak transcription	Right Atrium	heart
42	chr12:11894400-11899000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:11894600-11895600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr12:11894600-11895800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:11894600-11895800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:11894600-11896000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:11894600-11896000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:11894600-11896200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:11894600-11896400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:11894600-11896400	Weak transcription	Primary B cells from cord blood	blood

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