Variant report

Variant	rs7121911
Chromosome Location	chr11:16980153-16980154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16978536..16981349-chr11:16989679..16991819,2	K562	blood:
2	chr11:16970711..16972970-chr11:16979069..16980668,2	K562	blood:
3	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
4	chr11:16977354..16980189-chr11:17097593..17100398,3	MCF-7	breast:
5	chr11:16978286..16981863-chr11:16983113..16986432,3	K562	blood:
6	chr11:16971713..16981548-chr11:17031573..17039006,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10741716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766356	0.80[CHB][hapmap]
rs10766359	0.92[ASN][1000 genomes]
rs10766362	0.81[CEU][hapmap]
rs10832695	0.80[CHB][hapmap]
rs10832702	0.90[YRI][hapmap]
rs11024074	0.84[JPT][hapmap]
rs11829035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221693	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041236	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs2215085	0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs370161	0.80[CHB][hapmap]
rs378755	0.80[CHB][hapmap]
rs402973	0.80[CHB][hapmap]
rs416258	0.83[JPT][hapmap]
rs432373	0.80[CHB][hapmap]
rs442389	0.82[JPT][hapmap]
rs4756878	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757444	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4757446	0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4757447	0.90[YRI][hapmap]
rs4757453	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55646909	0.83[ASN][1000 genomes]
rs7117737	0.92[ASN][1000 genomes]
rs7117745	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7481080	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7925386	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931794	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs982550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982551	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7689	chr11:16945953-16990852	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7121911	SOX6	cis	parietal	SCAN
rs7121911	TEAD1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16955600-16991000	Weak transcription	Right Atrium	heart
2	chr11:16964200-16981400	Weak transcription	Gastric	stomach
3	chr11:16968000-16989800	Weak transcription	Esophagus	oesophagus
4	chr11:16968800-16984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:16973600-16982600	Enhancers	Fetal Intestine Large	intestine
6	chr11:16974800-16980600	Weak transcription	Fetal Lung	lung
7	chr11:16975400-16990600	Weak transcription	Spleen	Spleen
8	chr11:16976200-16980800	Weak transcription	Fetal Kidney	kidney
9	chr11:16978000-16981400	Enhancers	Fetal Intestine Small	intestine
10	chr11:16978600-16980400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:16978600-16981000	Weak transcription	Pancreas	Pancrea
12	chr11:16978600-16981200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:16978600-16981600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:16978600-16987600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:16978600-16988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:16978800-16980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:16978800-16980600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:16978800-16981000	Weak transcription	A549	lung
19	chr11:16979000-16980200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:16979000-16980200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:16979000-16980200	Weak transcription	HepG2	liver
22	chr11:16979000-16980800	Weak transcription	Colonic Mucosa	Colon
23	chr11:16979200-16980200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:16979200-16980200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:16979200-16980400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:16979200-16980600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:16979200-16980600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:16979200-16980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:16979800-16980400	Weak transcription	Placenta	Placenta
30	chr11:16979800-16981200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:16979800-16982200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:16979800-16983400	Enhancers	Stomach Mucosa	stomach
33	chr11:16980000-16981000	Enhancers	Liver	Liver
34	chr11:16980000-16982400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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