Variant report

Variant	rs35733768
Chromosome Location	chr4:147560199-147560200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:147560073-147560275	SK-N-SH	brain:	n/a	n/a
2	CHD2	chr4:147559720-147560281	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:147559917-147563587	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr4:147559935-147562474	H1-neurons	neurons:	n/a	n/a
5	SUZ12	chr4:147558103-147562402	NT2-D1	testis:	n/a	n/a
6	TBP	chr4:147560119-147560368	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr4:147559989-147560250	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr4:147559162-147562308	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr4:147560066-147560603	IMR90	lung:	n/a	n/a
10	SIN3A	chr4:147558992-147560802	H1-hESC	embryonic stem cell:	n/a	chr4:147559810-147559821 chr4:147560197-147560206
11	SIN3AK20	chr4:147560006-147560275	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr4:147560027-147560206	PFSK-1	brain:	n/a	n/a
13	CTCF	chr4:147560180-147560330	SK-N-SH_RA	brain:	n/a	n/a
14	ZNF143	chr4:147560062-147560381	H1-hESC	embryonic stem cell:	n/a	chr4:147560202-147560212 chr4:147560270-147560280
15	RAD21	chr4:147560122-147560401	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr4:147559887-147560608	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr4:147559691-147560630	H1-hESC	embryonic stem cell:	n/a	chr4:147560160-147560170 chr4:147559770-147559780
18	YY1	chr4:147560008-147560356	H1-hESC	embryonic stem cell:	n/a	chr4:147560159-147560168 chr4:147560020-147560031
19	CHD1	chr4:147560154-147560352	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr4:147560147-147560497	H1-hESC	embryonic stem cell:	n/a	n/a
21	SUZ12	chr4:147559999-147562291	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr4:147559882-147560614	H1-hESC	embryonic stem cell:	n/a	chr4:147560160-147560170
23	GABPA	chr4:147559986-147560287	H1-hESC	embryonic stem cell:	n/a	n/a
24	EGR1	chr4:147559693-147560488	H1-hESC	embryonic stem cell:	n/a	chr4:147559815-147559825 chr4:147559725-147559738 chr4:147560156-147560166 chr4:147559790-147559803 chr4:147560034-147560047
25	REST	chr4:147560005-147560612	HL-60	blood:	n/a	chr4:147560271-147560281
26	MXI1	chr4:147560148-147560383	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr4:147560127-147560477	SK-N-SH	brain:	n/a	n/a
28	MAX	chr4:147559642-147560630	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000264323	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10005616	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1910595	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28478962	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3810843	0.97[AFR][1000 genomes];0.85[EUR][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830107	chr4:147452434-147635720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv880238	chr4:147469559-147617963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2753640	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2754145	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv822768	chr4:147556986-147562654	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147558000-147562000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:147558000-147562000	Enhancers	Pancreas	Pancrea
3	chr4:147558200-147560600	Bivalent/Poised TSS	NH-A	brain
4	chr4:147558200-147561200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:147558200-147561800	Bivalent Enhancer	Lung	lung
6	chr4:147558200-147562200	Bivalent Enhancer	Fetal Brain Male	brain
7	chr4:147558400-147560600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:147558400-147561000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr4:147558800-147560200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr4:147558800-147561000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:147558800-147561000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr4:147558800-147561800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr4:147559000-147560400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr4:147559000-147560600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr4:147559000-147560600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:147559000-147560600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr4:147559000-147560600	Bivalent Enhancer	Esophagus	oesophagus
18	chr4:147559000-147560800	Bivalent Enhancer	Liver	Liver
19	chr4:147559000-147561000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:147559000-147562200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr4:147559200-147560200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr4:147559200-147560400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:147559200-147560400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:147559200-147560600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr4:147559200-147560600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:147559200-147560600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:147559200-147560600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:147559200-147560800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:147559200-147560800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr4:147559200-147560800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr4:147559200-147561000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr4:147559400-147560200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:147559400-147560200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:147559400-147560200	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr4:147559400-147560400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:147559400-147560400	Flanking Bivalent TSS/Enh	Ovary	ovary
37	chr4:147559600-147560200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr4:147559600-147560400	Bivalent Enhancer	HMEC	breast
39	chr4:147559600-147560600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:147559600-147560600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
41	chr4:147559600-147560800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr4:147559600-147560800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
43	chr4:147559600-147561600	Enhancers	Gastric	stomach
44	chr4:147559600-147562200	Bivalent Enhancer	Spleen	Spleen
45	chr4:147559800-147560200	Active TSS	Primary hematopoietic stem cells	blood
46	chr4:147559800-147560200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:147559800-147560200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:147559800-147560200	Bivalent Enhancer	Brain Angular Gyrus	brain
49	chr4:147559800-147560200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr4:147559800-147560200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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