Variant report

Variant	rs6533467
Chromosome Location	chr4:110738720-110738721
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	chr4:110738592-110738720	HepG2	liver:	n/a	n/a
2	MXI1	chr4:110735827-110739409	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr4:110738301-110739146	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:109570584..109572425-chr4:110736914..110740419,3	K562	blood:
2	chr4:110683032..110685527-chr4:110738470..110740917,2	K562	blood:
3	chr4:110622297..110625771-chr4:110735143..110738902,5	K562	blood:

Variant related genes	Relation type
ENSG00000272795	TF binding region
ENSG00000198856	Chromatin interaction
ENSG00000138794	Chromatin interaction
ENSG00000205403	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10004390	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10007208	1.00[EUR][1000 genomes]
rs1007050	1.00[EUR][1000 genomes]
rs10488880	1.00[EUR][1000 genomes]
rs11568889	1.00[CHD][hapmap]
rs11569124	1.00[EUR][1000 genomes]
rs11569132	1.00[EUR][1000 genomes]
rs11569134	1.00[CHD][hapmap]
rs11936595	1.00[EUR][1000 genomes]
rs11940838	1.00[CHD][hapmap];1.00[EUR][1000 genomes]
rs17040933	1.00[EUR][1000 genomes]
rs17041176	1.00[EUR][1000 genomes]
rs28361433	1.00[EUR][1000 genomes]
rs28437024	1.00[EUR][1000 genomes]
rs28682326	1.00[EUR][1000 genomes]
rs41464250	1.00[EUR][1000 genomes]
rs4698796	1.00[EUR][1000 genomes]
rs56285361	1.00[EUR][1000 genomes]
rs56737575	1.00[EUR][1000 genomes]
rs6811614	1.00[EUR][1000 genomes]
rs6828254	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6829540	1.00[EUR][1000 genomes]
rs6832396	1.00[EUR][1000 genomes]
rs6854247	1.00[EUR][1000 genomes]
rs72892672	1.00[EUR][1000 genomes]
rs73839166	1.00[EUR][1000 genomes]
rs73841124	1.00[EUR][1000 genomes]
rs7681770	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs9994891	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110736000-110739200	Active TSS	GM12878-XiMat	blood
2	chr4:110737600-110738800	Flanking Active TSS	Dnd41	blood
3	chr4:110737600-110739000	Transcr. at gene 5' and 3'	K562	blood
4	chr4:110737600-110739200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:110737600-110743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:110737600-110745400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:110737600-110745800	Weak transcription	Spleen	Spleen
8	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
9	chr4:110737800-110738800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:110737800-110738800	Enhancers	Brain Angular Gyrus	brain
11	chr4:110737800-110738800	Enhancers	Brain Anterior Caudate	brain
12	chr4:110737800-110738800	Enhancers	Brain Substantia Nigra	brain
13	chr4:110737800-110739000	Flanking Active TSS	HepG2	liver
14	chr4:110737800-110740000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:110737800-110740600	Weak transcription	Left Ventricle	heart
16	chr4:110737800-110741800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:110737800-110743400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:110737800-110746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:110737800-110746600	Weak transcription	Esophagus	oesophagus
20	chr4:110737800-110748000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:110737800-110753200	Weak transcription	Lung	lung
22	chr4:110738000-110738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:110738000-110738800	Enhancers	Primary T cells from cord blood	blood
24	chr4:110738000-110738800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:110738000-110738800	Weak transcription	Fetal Thymus	thymus
26	chr4:110738000-110739000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:110738000-110739000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:110738000-110739000	Enhancers	Fetal Brain Male	brain
29	chr4:110738000-110739200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:110738000-110739600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:110738000-110739600	Weak transcription	Placenta	Placenta
32	chr4:110738000-110739800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:110738000-110741400	Weak transcription	Primary B cells from cord blood	blood
34	chr4:110738000-110741800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:110738000-110743400	Weak transcription	Fetal Stomach	stomach
36	chr4:110738000-110747200	Weak transcription	Gastric	stomach
37	chr4:110738000-110748400	Weak transcription	Small Intestine	intestine
38	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:110738200-110738800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:110738200-110738800	Weak transcription	Adipose Nuclei	Adipose
41	chr4:110738200-110738800	Enhancers	Brain Germinal Matrix	brain
42	chr4:110738200-110738800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:110738200-110738800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:110738200-110739000	Enhancers	Fetal Brain Female	brain
45	chr4:110738200-110739000	Enhancers	Fetal Intestine Small	intestine
46	chr4:110738200-110739200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:110738200-110739400	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:110738200-110739600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:110738200-110739600	Weak transcription	Fetal Intestine Large	intestine
50	chr4:110738200-110739800	Weak transcription	Placenta Amnion	Placenta Amnion

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