Variant report

Variant	rs331448
Chromosome Location	chr11:36452459-36452460
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10501153	1.00[YRI][hapmap]
rs1365119	1.00[AMR][1000 genomes]
rs230484	1.00[AMR][1000 genomes]
rs331468	1.00[AMR][1000 genomes]
rs331469	1.00[AMR][1000 genomes]
rs331470	1.00[AMR][1000 genomes]
rs331471	1.00[AMR][1000 genomes]
rs331474	1.00[AMR][1000 genomes]
rs331476	1.00[AMR][1000 genomes]
rs331481	1.00[AMR][1000 genomes]
rs331483	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs5030450	1.00[YRI][hapmap]
rs5030458	1.00[YRI][hapmap]
rs7929961	1.00[YRI][hapmap]
rs7948430	1.00[AMR][1000 genomes]
rs890260	1.00[AMR][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
7	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
8	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:36443000-36453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:36443600-36452600	Weak transcription	NHDF-Ad	bronchial
14	chr11:36443600-36453200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:36443800-36457400	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:36444000-36471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:36444200-36471400	Weak transcription	Small Intestine	intestine
18	chr11:36444400-36453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:36447600-36453000	Weak transcription	Hela-S3	cervix
20	chr11:36447600-36471000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:36448400-36452600	Weak transcription	HSMMtube	muscle
22	chr11:36448400-36463800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:36448400-36470600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:36448600-36470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:36448600-36471000	Weak transcription	Fetal Thymus	thymus
26	chr11:36448600-36471000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:36448800-36452600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:36448800-36463000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:36448800-36471400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:36449000-36452600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:36449200-36453200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:36449200-36453400	Weak transcription	Adipose Nuclei	Adipose
33	chr11:36449200-36467800	Weak transcription	Ovary	ovary
34	chr11:36449200-36469200	Weak transcription	Placenta	Placenta
35	chr11:36449200-36471400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:36449400-36453000	Weak transcription	NHLF	lung
37	chr11:36449400-36453200	Weak transcription	Fetal Lung	lung
38	chr11:36449400-36457800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:36449400-36471200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:36449400-36471200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:36449600-36452600	Weak transcription	HMEC	breast
42	chr11:36449600-36453000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:36449600-36457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:36449600-36463000	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:36449600-36467600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:36449600-36469000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
48	chr11:36449800-36452600	Weak transcription	Osteobl	bone
49	chr11:36449800-36453000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:36449800-36453200	Weak transcription	Spleen	Spleen

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