Variant report

Variant	rs598412
Chromosome Location	chr7:129127736-129127737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129117143..129119908-chr7:129125722..129128134,2	K562	blood:
2	chr7:129006207..129008330-chr7:129126749..129128269,2	MCF-7	breast:
3	chr7:129125678..129128261-chr7:129169143..129171738,2	K562	blood:
4	chr7:129126707..129128258-chr7:129129882..129131406,2	MCF-7	breast:
5	chr7:129127657..129130703-chr7:129131027..129133692,4	K562	blood:

Variant related genes	Relation type
ENSG00000239919	Chromatin interaction
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10954226	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs11982324	0.83[ASN][1000 genomes]
rs12112374	0.82[MEX][hapmap]
rs1248452	0.82[ASN][1000 genomes]
rs12667232	0.91[CHD][hapmap]
rs12671604	0.91[CHD][hapmap]
rs1559486	0.82[MEX][hapmap];0.84[TSI][hapmap]
rs624118	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs639663	0.84[ASN][1000 genomes]
rs639696	0.82[ASN][1000 genomes]
rs642755	0.84[ASN][1000 genomes]
rs644723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs657528	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs691124	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs691158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs691435	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs691555	0.81[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs691807	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs692432	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs692597	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs692625	0.99[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs692697	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6966595	0.82[TSI][hapmap]
rs6980385	0.82[MEX][hapmap]
rs712689	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs712691	0.91[EUR][1000 genomes]
rs753336	0.91[CHD][hapmap]
rs822038	0.85[ASW][hapmap];0.80[CHB][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs822040	0.87[TSI][hapmap]
rs966481	0.91[CHD][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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
2	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
3	chr7:129097600-129128600	Weak transcription	NH-A	brain
4	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
6	chr7:129103200-129129600	Weak transcription	Dnd41	blood
7	chr7:129103200-129135400	Weak transcription	HepG2	liver
8	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:129108800-129128600	Weak transcription	Osteobl	bone
10	chr7:129111800-129128800	Weak transcription	HSMM	muscle
11	chr7:129112200-129129000	Weak transcription	NHDF-Ad	bronchial
12	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
13	chr7:129117600-129128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:129120000-129129600	Weak transcription	Small Intestine	intestine
15	chr7:129120800-129130000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:129121000-129128000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:129121200-129129200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:129121200-129130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:129121600-129129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:129121600-129129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:129121600-129132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:129121800-129129200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
24	chr7:129123000-129128200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:129123000-129128200	Weak transcription	Fetal Stomach	stomach
26	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
27	chr7:129124400-129128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:129124400-129132000	Weak transcription	Psoas Muscle	Psoas
29	chr7:129124800-129128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:129126000-129129400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:129126000-129129800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:129126000-129129800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:129126000-129131200	Weak transcription	Left Ventricle	heart
34	chr7:129126000-129133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:129126000-129136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:129126200-129128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:129126200-129129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:129126200-129133000	Weak transcription	NHEK	skin
39	chr7:129126400-129128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:129126400-129133000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:129127000-129130000	Strong transcription	K562	blood
42	chr7:129127400-129127800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:129127400-129129400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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