Variant report

Variant	rs28463588
Chromosome Location	chr4:166133965-166133966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:166133930-166134040	HepG2	liver:	n/a	n/a
2	RAD21	chr4:166133843-166134144	HepG2	liver:	n/a	n/a
3	CTCF	chr4:166133820-166133970	HRE	kidney:	n/a	n/a
4	CTCF	chr4:166133920-166134070	HepG2	liver:	n/a	n/a
5	RAD21	chr4:166133884-166134090	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:166133953-166134035	K562	blood:	n/a	n/a
7	POU2F2	chr4:166133639-166133983	GM12878	blood:	n/a	n/a
8	RAD21	chr4:166133857-166134098	HepG2	liver:	n/a	n/a
9	CTCF	chr4:166133828-166134143	GM12878	blood:	n/a	n/a
10	CTCF	chr4:166133921-166134068	GM10248	blood:	n/a	n/a
11	CTCF	chr4:166133900-166134050	HRE	kidney:	n/a	n/a
12	CTCF	chr4:166133861-166134109	HepG2	liver:	n/a	n/a
13	RAD21	chr4:166133880-166134050	GM12878	blood:	n/a	n/a
14	RAD21	chr4:166133798-166134141	HepG2	liver:	n/a	n/a
15	CTCF	chr4:166133920-166134070	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr4:166133959-166134020	GM10266	blood:	n/a	n/a
17	RAD21	chr4:166133869-166134106	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr4:166133842-166134081	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr4:166133943-166133984	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
TMEM192	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11733502	0.84[ASN][1000 genomes]
rs3857013	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv967809	chr4:166131906-166137884	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166134600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:166129600-166137800	Weak transcription	Small Intestine	intestine
3	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
5	chr4:166129800-166142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:166130200-166134600	Weak transcription	A549	lung
7	chr4:166130200-166135600	Weak transcription	Osteobl	bone
8	chr4:166130200-166137600	Weak transcription	HSMMtube	muscle
9	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
10	chr4:166130400-166134000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:166130400-166137200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:166130400-166138000	Weak transcription	Stomach Mucosa	stomach
13	chr4:166130400-166142400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:166130400-166143400	Weak transcription	Fetal Thymus	thymus
15	chr4:166130400-166143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:166130400-166143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:166130400-166143600	Weak transcription	HSMM	muscle
18	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:166130600-166134200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:166130600-166135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:166130600-166136800	Weak transcription	Adipose Nuclei	Adipose
22	chr4:166130600-166137000	Weak transcription	NH-A	brain
23	chr4:166130600-166137800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:166130600-166142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:166130600-166142400	Weak transcription	Right Ventricle	heart
26	chr4:166130600-166142800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:166130600-166143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:166130600-166146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:166130600-166200800	Weak transcription	Lung	lung
30	chr4:166130800-166135400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:166130800-166135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:166131200-166142400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:166131200-166142600	Weak transcription	Psoas Muscle	Psoas
34	chr4:166131200-166143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:166131400-166135400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:166131400-166148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:166131600-166134400	Weak transcription	HUVEC	blood vessel
38	chr4:166131600-166135400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:166131600-166137800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:166131600-166138600	Weak transcription	Esophagus	oesophagus
41	chr4:166131600-166143200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:166131600-166143400	Weak transcription	Dnd41	blood
43	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:166131600-166165800	Weak transcription	Gastric	stomach
45	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:166132000-166134000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:166132000-166135200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:166132000-166135400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:166132000-166135400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:166132000-166135400	Weak transcription	Brain Germinal Matrix	brain

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