Variant report

Variant	rs34727311
Chromosome Location	chr4:110222972-110222973
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	POLR2A	chr4:110222652-110224622	Hela-S3	cervix:	n/a	n/a
2	SMARCC1	chr4:110222938-110224752	Hela-S3	cervix:	n/a	n/a
3	MAX	chr4:110222673-110223240	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
4	MAX	chr4:110222744-110223166	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
5	MAX	chr4:110222638-110223069	Hela-S3	cervix:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
6	SMARCB1	chr4:110222744-110224609	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr4:110222693-110224729	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
8	RAD21	chr4:110222906-110223080	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr4:110222639-110224837	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
10	POLR2A	chr4:110222620-110224651	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr4:110222717-110223099	Hela-S3	cervix:	n/a	n/a
12	MAX	chr4:110222734-110224724	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110223549-110223558 chr4:110222847-110222857
13	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr4:110222780-110223173	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr4:110222627-110223042	Hela-S3	cervix:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
16	MXI1	chr4:110222638-110223129	Hela-S3	cervix:	n/a	chr4:110222847-110222856

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24B-1	chr4:110222877-110223861	NONHSAT097774

Variant related genes	Relation type
ENSG00000246774	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11932581	1.00[EUR][1000 genomes]
rs11932667	1.00[EUR][1000 genomes]
rs11932771	1.00[EUR][1000 genomes]
rs11933064	1.00[EUR][1000 genomes]
rs11940005	1.00[EUR][1000 genomes]
rs11940194	1.00[EUR][1000 genomes]
rs11945014	1.00[EUR][1000 genomes]
rs11945496	1.00[EUR][1000 genomes]
rs11946917	1.00[EUR][1000 genomes]
rs11946981	1.00[EUR][1000 genomes]
rs17040297	1.00[EUR][1000 genomes]
rs17040364	1.00[EUR][1000 genomes]
rs17040369	1.00[EUR][1000 genomes]
rs17040375	1.00[EUR][1000 genomes]
rs17040384	1.00[EUR][1000 genomes]
rs28528383	1.00[EUR][1000 genomes]
rs28642881	1.00[EUR][1000 genomes]
rs72892728	1.00[EUR][1000 genomes]
rs72892735	1.00[EUR][1000 genomes]
rs72892737	1.00[EUR][1000 genomes]
rs73838561	1.00[EUR][1000 genomes]
rs7695097	1.00[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv515893	chr4:110222845-110254841	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110207400-110223000	Weak transcription	Aorta	Aorta
2	chr4:110221600-110224200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
3	chr4:110221800-110223000	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr4:110221800-110224600	Active TSS	Hela-S3	cervix
5	chr4:110222000-110223000	Active TSS	HSMM	muscle
6	chr4:110222200-110224600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:110222400-110223000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr4:110222600-110223000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:110222600-110223000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr4:110222600-110223000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:110222600-110223000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr4:110222600-110223000	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr4:110222600-110223000	Bivalent Enhancer	Fetal Thymus	thymus
14	chr4:110222600-110223000	Enhancers	Pancreas	Pancrea
15	chr4:110222600-110223000	Bivalent Enhancer	Thymus	Thymus
16	chr4:110222600-110223200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:110222600-110223200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr4:110222600-110223200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:110222600-110223200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:110222600-110223200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:110222600-110223400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
24	chr4:110222600-110223400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr4:110222600-110223800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
27	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
28	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr4:110222600-110224400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:110222600-110224800	Active TSS	HSMMtube	muscle
31	chr4:110222800-110223000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:110222800-110223000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:110222800-110223000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr4:110222800-110223000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr4:110222800-110223000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr4:110222800-110223000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr4:110222800-110223000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:110222800-110223000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr4:110222800-110223000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:110222800-110223000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:110222800-110223000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:110222800-110223000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:110222800-110223000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:110222800-110223000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr4:110222800-110223000	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr4:110222800-110223000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
47	chr4:110222800-110223000	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr4:110222800-110223000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr4:110222800-110223000	Bivalent Enhancer	HUVEC	blood vessel
50	chr4:110222800-110223000	Bivalent/Poised TSS	NH-A	brain

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