Variant report

Variant	rs7104003
Chromosome Location	chr11:16956501-16956502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16956450..16960199-chr11:17097613..17099351,3	MCF-7	breast:
2	chr11:16949254..16952031-chr11:16954988..16957108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10741714	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741715	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766361	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766363	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832702	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832704	0.89[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs10832705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024080	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11024085	0.88[EUR][1000 genomes]
rs11827202	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362815	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs17700056	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs17773381	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860026	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757448	0.89[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs4757455	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119088	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865768	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.98[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
rs7104003	TSG101	cis	cerebellum	SCAN
rs7104003	TEAD1	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16948200-16959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:16948400-16967800	Weak transcription	HepG2	liver
3	chr11:16948600-16967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:16949400-16957400	Weak transcription	A549	lung
5	chr11:16951200-16958000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:16951800-16957000	Strong transcription	Fetal Intestine Small	intestine
7	chr11:16954600-16967400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:16954800-16964200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:16955000-16956600	Enhancers	Liver	Liver
10	chr11:16955400-16956800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:16955400-16958000	Enhancers	Fetal Brain Male	brain
12	chr11:16955400-16958200	Enhancers	Fetal Heart	heart
13	chr11:16955600-16956800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:16955600-16957200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:16955600-16957400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:16955600-16958200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:16955600-16962400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:16955600-16991000	Weak transcription	Right Atrium	heart
19	chr11:16955800-16957000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:16955800-16958200	Weak transcription	Pancreas	Pancrea
21	chr11:16955800-16958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:16955800-16959600	Weak transcription	Brain Substantia Nigra	brain
23	chr11:16955800-16962400	Weak transcription	Right Ventricle	heart
24	chr11:16955800-16964800	Weak transcription	Left Ventricle	heart
25	chr11:16955800-16967600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:16955800-16967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:16956000-16957200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:16956000-16957200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:16956000-16957400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:16956000-16957400	Weak transcription	Stomach Mucosa	stomach
31	chr11:16956000-16958000	Weak transcription	Ovary	ovary
32	chr11:16956000-16963400	Weak transcription	Gastric	stomach
33	chr11:16956200-16956800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:16956200-16957200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:16956200-16957200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:16956200-16958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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