Variant report

Variant	rs3805319
Chromosome Location	chr4:16508711-16508712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1354079	0.81[EUR][1000 genomes]
rs1392894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1392897	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1501141	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58537556	0.81[AFR][1000 genomes]
rs6449258	0.81[EUR][1000 genomes]
rs6814110	0.82[EUR][1000 genomes]
rs872479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs976362	0.80[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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv428755	chr4:16366311-16528135	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16498400-16513200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:16498400-16518200	Weak transcription	Brain Angular Gyrus	brain
3	chr4:16498600-16509000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:16498800-16509000	Weak transcription	Osteobl	bone
5	chr4:16501200-16509000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:16501200-16509400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:16501400-16510800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:16501400-16511400	Weak transcription	Gastric	stomach
9	chr4:16501600-16508800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:16502200-16510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:16502200-16512200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:16502400-16510800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr4:16502800-16511400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:16502800-16512200	Weak transcription	Pancreas	Pancrea
15	chr4:16503000-16510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:16503000-16510800	Weak transcription	Fetal Lung	lung
17	chr4:16503000-16511200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:16503000-16511400	Weak transcription	Right Ventricle	heart
19	chr4:16503000-16513000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:16503200-16509000	Weak transcription	Liver	Liver
21	chr4:16503200-16509200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:16503200-16509200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:16503200-16510600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:16503200-16510800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:16503200-16518400	Weak transcription	Brain Substantia Nigra	brain
26	chr4:16503400-16510200	Weak transcription	Fetal Kidney	kidney
27	chr4:16504000-16508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:16504200-16509600	Strong transcription	Fetal Muscle Leg	muscle
29	chr4:16504600-16509000	Weak transcription	Left Ventricle	heart
30	chr4:16504600-16509600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:16504600-16511400	Weak transcription	Esophagus	oesophagus
32	chr4:16504600-16511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:16505400-16509400	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:16505400-16513400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:16505400-16522200	Weak transcription	Lung	lung
36	chr4:16505600-16508800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:16505600-16509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:16505800-16509400	Weak transcription	Fetal Brain Female	brain
39	chr4:16505800-16512000	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:16506400-16514600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:16506600-16510600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:16507400-16509600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:16507400-16511400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:16507800-16509000	Weak transcription	Spleen	Spleen
45	chr4:16507800-16509200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:16507800-16509600	Weak transcription	Placenta	Placenta
47	chr4:16508000-16508800	Weak transcription	Fetal Stomach	stomach
48	chr4:16508200-16510400	Strong transcription	Adipose Nuclei	Adipose
49	chr4:16508200-16510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:16508200-16511400	Strong transcription	Ovary	ovary

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