Variant report

Variant	rs62336170
Chromosome Location	chr4:129115454-129115455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12502412	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12505002	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4834232	0.82[AMR][1000 genomes]
rs62334582	0.82[AMR][1000 genomes]
rs62334588	0.82[AMR][1000 genomes]
rs62334591	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62334615	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62334617	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62334633	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62336172	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
6	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
2	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:129092600-129122000	Weak transcription	Esophagus	oesophagus
4	chr4:129094600-129122200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:129096600-129121200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:129098200-129119600	Weak transcription	Fetal Lung	lung
8	chr4:129098400-129124000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:129098800-129122400	Weak transcription	HUVEC	blood vessel
11	chr4:129099000-129125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:129100200-129129400	Weak transcription	HepG2	liver
13	chr4:129102800-129121000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:129103600-129129800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:129103800-129131600	Weak transcription	NHLF	lung
16	chr4:129105400-129122000	Weak transcription	Right Ventricle	heart
17	chr4:129106600-129124200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:129106600-129131000	Weak transcription	Colonic Mucosa	Colon
19	chr4:129108000-129122000	Weak transcription	Placenta	Placenta
20	chr4:129108200-129149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:129108400-129119400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:129108400-129119400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:129108400-129119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:129108400-129136000	Weak transcription	Lung	lung
25	chr4:129108600-129119400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:129108600-129119600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:129108600-129119600	Weak transcription	Fetal Intestine Large	intestine
28	chr4:129108600-129120600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:129108600-129120600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:129108600-129122000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:129108600-129122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:129108600-129129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:129108600-129132800	Weak transcription	Fetal Brain Female	brain
34	chr4:129108600-129133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:129108800-129120400	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:129109000-129119600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:129109200-129121000	Weak transcription	Fetal Stomach	stomach
38	chr4:129109200-129121400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:129109200-129122000	Weak transcription	Pancreas	Pancrea
40	chr4:129110400-129134200	Weak transcription	Small Intestine	intestine
41	chr4:129111600-129121400	Weak transcription	Primary T cells from cord blood	blood
42	chr4:129111800-129121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:129111800-129121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:129112600-129119600	Weak transcription	HMEC	breast
45	chr4:129112600-129133600	Weak transcription	Fetal Kidney	kidney
46	chr4:129112800-129116000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:129112800-129120000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:129112800-129120200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:129112800-129120400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:129112800-129121400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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