Variant report

Variant	rs6533196
Chromosome Location	chr4:106387331-106387332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106378702..106380564-chr4:106385135..106387500,2	MCF-7	breast:
2	chr4:106366716..106368636-chr4:106386023..106388059,2	K562	blood:
3	chr4:106354166..106355972-chr4:106386471..106389222,2	K562	blood:
4	chr4:106385665..106390860-chr4:106392810..106395271,7	MCF-7	breast:
5	chr4:106372212..106374877-chr4:106385013..106387796,2	K562	blood:

Variant related genes	Relation type
ENSG00000138777	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10007134	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10020998	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1125254	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11934602	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11934709	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2023840	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2046880	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2298732	0.92[ASN][1000 genomes]
rs2866883	0.91[ASN][1000 genomes]
rs35775499	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3864225	0.91[ASN][1000 genomes]
rs4235414	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699176	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699178	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533197	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533198	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6533199	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533201	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6816997	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6836448	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs763289	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7678401	0.92[ASN][1000 genomes]
rs7691192	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8180199	0.91[ASN][1000 genomes]
rs981136	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9990819	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9999896	0.95[EUR][1000 genomes];0.85[ASN][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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
2	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:106336800-106387800	Weak transcription	NHLF	lung
4	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
6	chr4:106348000-106388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:106348200-106387800	Weak transcription	Lung	lung
8	chr4:106348200-106393000	Weak transcription	Thymus	Thymus
9	chr4:106355400-106393200	Weak transcription	Esophagus	oesophagus
10	chr4:106357200-106387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:106357200-106392600	Weak transcription	Brain Angular Gyrus	brain
12	chr4:106357600-106392200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:106359000-106387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:106361800-106387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:106362200-106392600	Weak transcription	A549	lung
16	chr4:106363800-106390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:106364600-106392000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:106364600-106392600	Weak transcription	Fetal Kidney	kidney
19	chr4:106365800-106387600	Weak transcription	Placenta	Placenta
20	chr4:106366000-106392400	Weak transcription	Osteobl	bone
21	chr4:106366000-106392600	Weak transcription	Psoas Muscle	Psoas
22	chr4:106366600-106392200	Weak transcription	Liver	Liver
23	chr4:106366600-106392200	Weak transcription	HepG2	liver
24	chr4:106366600-106392600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:106366800-106393200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:106368200-106392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:106369400-106388800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:106369600-106388000	Weak transcription	Hela-S3	cervix
29	chr4:106370000-106392600	Weak transcription	HUVEC	blood vessel
30	chr4:106373200-106387600	Weak transcription	Fetal Thymus	thymus
31	chr4:106373200-106392600	Weak transcription	NH-A	brain
32	chr4:106373400-106390600	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:106373400-106392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:106374000-106387800	Weak transcription	Ovary	ovary
35	chr4:106374000-106392400	Weak transcription	NHDF-Ad	bronchial
36	chr4:106374000-106393000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:106374600-106392400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:106374600-106392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:106375000-106387400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:106375000-106387400	Weak transcription	Adipose Nuclei	Adipose
41	chr4:106375000-106391400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:106375400-106387800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:106375400-106392600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:106375400-106393000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:106375400-106393000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:106375600-106387800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:106376000-106387400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:106376800-106392600	Weak transcription	Fetal Lung	lung
49	chr4:106377000-106387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:106377000-106387600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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