Variant report

Variant	rs1950148
Chromosome Location	chr7:70778156-70778157
allele	C/T
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	MAFK	chr7:70778104-70778425	H1-hESC	embryonic stem cell:	n/a	chr7:70778274-70778289 chr7:70778279-70778290 chr7:70778279-70778290
2	MAFK	chr7:70778135-70778421	HepG2	liver:	n/a	chr7:70778274-70778289 chr7:70778279-70778290 chr7:70778279-70778290
3	MAFK	chr7:70778099-70778452	HepG2	liver:	n/a	chr7:70778274-70778289 chr7:70778279-70778290 chr7:70778279-70778290
4	MAFK	chr7:70778124-70778402	IMR90	lung:	n/a	chr7:70778274-70778289 chr7:70778279-70778290 chr7:70778279-70778290
5	MAFF	chr7:70778138-70778442	HepG2	liver:	n/a	chr7:70778273-70778291

Variant related genes	Relation type
ENSG00000266688	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10230586	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10246940	0.86[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10265527	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10267524	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10268327	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10271589	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10807731	0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs10950257	0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap]
rs11761703	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11765927	0.83[AMR][1000 genomes]
rs11768963	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12154870	0.91[JPT][hapmap]
rs12154884	0.89[ASN][1000 genomes]
rs12155133	0.89[GIH][hapmap];0.91[JPT][hapmap]
rs12155139	0.87[ASN][1000 genomes]
rs12534549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1317290	0.82[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1317429	0.82[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1317892	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs17143199	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1922525	0.82[ASN][1000 genomes]
rs2091792	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2107796	0.95[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs2107797	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2107800	0.88[ASN][1000 genomes]
rs2158609	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2527294	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2527308	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2527310	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2527314	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707432	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs28392825	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28479972	0.82[ASN][1000 genomes]
rs28588236	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28664864	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28678480	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3923569	0.83[JPT][hapmap]
rs3923570	0.81[JPT][hapmap]
rs3973938	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4445102	0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4520056	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4584034	0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4719104	0.88[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4719106	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4719107	0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4719110	0.95[GIH][hapmap]
rs4719113	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4719114	0.88[ASN][1000 genomes]
rs4719116	0.90[JPT][hapmap]
rs4719117	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56166024	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57442026	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59972409	0.84[ASN][1000 genomes]
rs6460650	0.93[GIH][hapmap]
rs6460651	0.90[ASN][1000 genomes]
rs6460652	0.88[ASN][1000 genomes]
rs6460653	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.88[ASN][1000 genomes]
rs6944999	0.93[GIH][hapmap]
rs6954049	0.86[ASN][1000 genomes]
rs6957946	0.82[ASN][1000 genomes]
rs6967666	0.90[ASN][1000 genomes]
rs6976592	0.91[ASN][1000 genomes]
rs6977328	0.82[JPT][hapmap]
rs73181630	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73356099	0.81[ASN][1000 genomes]
rs7385083	0.91[JPT][hapmap]
rs7776752	0.84[ASN][1000 genomes]
rs7787933	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs7788793	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7790686	0.84[YRI][hapmap]
rs7791195	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9638614	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9638616	0.86[JPT][hapmap]
rs9638618	0.83[JPT][hapmap]
rs9638620	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9654908	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9986885	0.85[ASN][1000 genomes]

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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70765800-70790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:70773400-70780800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70773400-70789800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:70773600-70778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:70773600-70778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:70773600-70778400	Weak transcription	Fetal Lung	lung
7	chr7:70773800-70778200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:70773800-70778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:70774000-70779800	Weak transcription	Fetal Stomach	stomach
10	chr7:70774400-70778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:70777000-70778200	Weak transcription	Brain Anterior Caudate	brain
12	chr7:70777000-70778400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:70777000-70788800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:70777400-70778400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:70777600-70778200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:70777600-70779000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:70778000-70778400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:70778000-70779400	Enhancers	Rectal Smooth Muscle	rectum

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