Variant report

Variant	rs6549184
Chromosome Location	chr3:69150277-69150278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69143722..69145244-chr3:69149402..69151807,2	K562	blood:
2	chr3:69061746..69063360-chr3:69150145..69151694,2	K562	blood:
3	chr3:69128677..69131589-chr3:69148165..69150523,2	K562	blood:

Variant related genes	Relation type
ENSG00000144744	Chromatin interaction
ENSG00000163378	Chromatin interaction
ENSG00000244513	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489	1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1051901	0.93[CHB][hapmap];0.89[GIH][hapmap]
rs1131960	0.89[GIH][hapmap]
rs13090606	0.93[CHB][hapmap]
rs17005366	0.89[GIH][hapmap]
rs2009602	0.87[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs2271122	0.87[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap]
rs2292199	0.93[CHB][hapmap]
rs3772979	0.87[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs3772980	0.93[CHB][hapmap];0.89[GIH][hapmap]
rs3796213	0.82[CEU][hapmap];0.93[CHB][hapmap];0.89[GIH][hapmap]
rs3796214	0.89[GIH][hapmap]
rs3821562	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs3853157	0.87[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs6549181	0.87[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs6777032	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs6787569	1.00[MEX][hapmap]
rs7614224	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7625579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7627893	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9813514	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69135200-69155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:69135800-69155800	Weak transcription	Fetal Kidney	kidney
3	chr3:69136800-69156400	Weak transcription	Fetal Brain Male	brain
4	chr3:69139800-69154600	Weak transcription	A549	lung
5	chr3:69141600-69151000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:69141600-69151400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:69141600-69151600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:69141600-69152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:69141800-69150800	Weak transcription	Fetal Lung	lung
10	chr3:69142000-69160400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:69142200-69153400	Weak transcription	Fetal Brain Female	brain
12	chr3:69142400-69152200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:69143400-69150800	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr3:69143600-69150600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:69143600-69150600	Weak transcription	Esophagus	oesophagus
16	chr3:69143600-69151000	Weak transcription	Gastric	stomach
17	chr3:69143600-69151200	Weak transcription	Colonic Mucosa	Colon
18	chr3:69143600-69152600	Weak transcription	Ovary	ovary
19	chr3:69143600-69152800	Weak transcription	Brain Germinal Matrix	brain
20	chr3:69143600-69160200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:69144000-69150800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:69144000-69151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:69144000-69151000	Weak transcription	Liver	Liver
24	chr3:69144200-69151200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:69144200-69153000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:69144400-69150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:69144400-69150600	Weak transcription	Hela-S3	cervix
28	chr3:69144400-69150800	Weak transcription	Fetal Intestine Large	intestine
29	chr3:69144400-69150800	Weak transcription	NHDF-Ad	bronchial
30	chr3:69145200-69150400	Weak transcription	Spleen	Spleen
31	chr3:69145200-69150600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:69145200-69150600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:69145200-69150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:69145400-69150600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:69145400-69150600	Weak transcription	NHLF	lung
36	chr3:69145400-69150800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr3:69145400-69151000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:69145600-69151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:69145600-69151000	Weak transcription	Stomach Mucosa	stomach
40	chr3:69145600-69151600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:69145600-69153600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:69145600-69160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:69145800-69150600	Weak transcription	Thymus	Thymus
44	chr3:69145800-69151000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:69145800-69153400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:69145800-69160200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:69146000-69151000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:69146200-69150800	Weak transcription	HepG2	liver
49	chr3:69146200-69160200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:69146600-69151200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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