Variant report

Variant	rs2115925
Chromosome Location	chr11:121181848-121181849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10790422	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs10790430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs10790431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs10892718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2060007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4144287	0.83[CHB][hapmap]
rs4935767	0.91[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	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2115925	SC5DL	cis	brain	BrainEAC
rs2115925	SC5DL	cis	cerebellar cortex	BrainEAC

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121164200-121183000	Weak transcription	Esophagus	oesophagus
2	chr11:121164400-121183000	Weak transcription	Fetal Stomach	stomach
3	chr11:121164800-121182000	Weak transcription	A549	lung
4	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:121171600-121182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:121171600-121189600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:121171800-121190200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:121172600-121182000	Strong transcription	Primary T cells from cord blood	blood
9	chr11:121176200-121190000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:121177800-121183000	Weak transcription	Aorta	Aorta
11	chr11:121178000-121186600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:121178000-121190000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:121178200-121185600	Weak transcription	Lung	lung
14	chr11:121178200-121189800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:121178200-121189800	Weak transcription	Fetal Brain Male	brain
16	chr11:121178200-121190200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:121178200-121190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:121178200-121196400	Weak transcription	Ovary	ovary
19	chr11:121178400-121189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:121178400-121190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:121178400-121192400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:121178600-121182000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:121178600-121182400	Weak transcription	HUVEC	blood vessel
24	chr11:121178600-121182400	Weak transcription	Osteobl	bone
25	chr11:121178600-121183000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:121178600-121183800	Weak transcription	Left Ventricle	heart
27	chr11:121178600-121189400	Weak transcription	Fetal Intestine Large	intestine
28	chr11:121178600-121190200	Weak transcription	NHEK	skin
29	chr11:121178600-121192400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:121178600-121192800	Weak transcription	Right Ventricle	heart
31	chr11:121178800-121182400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:121178800-121182800	Weak transcription	Fetal Lung	lung
33	chr11:121178800-121189800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:121178800-121190000	Weak transcription	Brain Germinal Matrix	brain
35	chr11:121178800-121190200	Weak transcription	Brain Anterior Caudate	brain
36	chr11:121178800-121192200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:121178800-121192200	Weak transcription	Brain Angular Gyrus	brain
38	chr11:121178800-121192200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:121178800-121194000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:121179000-121182000	Weak transcription	HepG2	liver
41	chr11:121179000-121192000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:121179400-121182000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:121179400-121182400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:121179400-121184200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:121179400-121185600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:121179600-121183600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:121179600-121184000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:121179800-121189600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:121179800-121190200	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:121180000-121183400	Weak transcription	NH-A	brain

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