Variant report

Variant	rs2076932
Chromosome Location	chr2:30636916-30636917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10180482	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10201729	0.82[EUR][1000 genomes]
rs10202174	0.82[EUR][1000 genomes]
rs12053230	0.83[JPT][hapmap]
rs12990925	0.97[ASN][1000 genomes]
rs13014119	0.81[EUR][1000 genomes]
rs1357850	0.85[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs1525063	0.85[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs6724421	0.81[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2076932	FAM179A	cis	cerebellum	SCAN
rs2076932	LYCAT	cis	multi-tissue	Pritchard
rs2076932	LCLAT1	cis	cerebellum	SCAN
rs2076932	LYCAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:30629600-30638000	Enhancers	Fetal Lung	lung
7	chr2:30629800-30638800	Enhancers	NHDF-Ad	bronchial
8	chr2:30630200-30638000	Enhancers	NHLF	lung
9	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:30631600-30637000	Enhancers	Colon Smooth Muscle	Colon
11	chr2:30631600-30639800	Weak transcription	Small Intestine	intestine
12	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
13	chr2:30633800-30638000	Enhancers	Fetal Heart	heart
14	chr2:30633800-30644000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:30633800-30644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:30634000-30639600	Weak transcription	Aorta	Aorta
17	chr2:30634000-30639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:30634000-30644400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:30634800-30644000	Weak transcription	Thymus	Thymus
20	chr2:30635000-30637000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:30635000-30637400	Enhancers	Ovary	ovary
22	chr2:30635200-30643800	Weak transcription	Fetal Thymus	thymus
23	chr2:30635600-30637400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:30636000-30639800	Weak transcription	Adipose Nuclei	Adipose
25	chr2:30636200-30637600	Enhancers	Fetal Kidney	kidney
26	chr2:30636200-30639600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:30636200-30639800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:30636200-30639800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:30636200-30639800	Weak transcription	HSMMtube	muscle
30	chr2:30636400-30637000	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:30636400-30637000	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:30636400-30637200	Enhancers	Right Ventricle	heart
33	chr2:30636400-30639200	Weak transcription	Left Ventricle	heart
34	chr2:30636400-30639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:30636400-30639800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:30636400-30644000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:30636400-30644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:30636400-30644400	Weak transcription	Gastric	stomach
39	chr2:30636600-30639600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:30636600-30639600	Weak transcription	Right Atrium	heart
41	chr2:30636600-30639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:30636800-30637200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:30636800-30637200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:30636800-30639200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:30636800-30639800	Weak transcription	Placenta	Placenta
46	chr2:30636800-30644400	Weak transcription	Fetal Muscle Trunk	muscle

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