Variant report

Variant	rs4941690
Chromosome Location	chr13:51722405-51722406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51721200..51723188-chr13:51728041..51731012,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12429772	0.96[ASN][1000 genomes]
rs12430672	0.96[ASN][1000 genomes]
rs1591977	0.98[ASN][1000 genomes]
rs1856805	0.94[ASN][1000 genomes]
rs1856806	0.94[ASN][1000 genomes]
rs1934742	0.95[ASN][1000 genomes]
rs2408293	0.96[ASN][1000 genomes]
rs2408294	0.95[ASN][1000 genomes]
rs4356374	0.96[ASN][1000 genomes]
rs4942961	0.95[ASN][1000 genomes]
rs57687949	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61344825	0.95[ASN][1000 genomes]
rs7322895	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7331064	0.96[ASN][1000 genomes]
rs7332547	0.96[ASN][1000 genomes]
rs7333710	0.96[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	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv900079	chr13:51711436-51739168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900080	chr13:51711436-51754873	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4941690	ATP7B	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51719800-51725200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:51720400-51722600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:51720400-51722800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:51720400-51723200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51720400-51724000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:51720600-51723600	Weak transcription	Right Atrium	heart
7	chr13:51720600-51724000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:51720600-51724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:51720600-51724600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:51720600-51725200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:51720600-51731600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:51720800-51724600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:51721600-51728600	Weak transcription	Spleen	Spleen
14	chr13:51722000-51724000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:51722200-51722600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr13:51722200-51722800	Enhancers	Adipose Nuclei	Adipose
17	chr13:51722200-51723000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:51722200-51723200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:51722200-51723200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr13:51722200-51723200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr13:51722200-51723200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr13:51722200-51723200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr13:51722200-51723200	Enhancers	HUVEC	blood vessel
24	chr13:51722200-51724000	Enhancers	Brain Anterior Caudate	brain
25	chr13:51722400-51722600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr13:51722400-51723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:51722400-51723200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:51722400-51723200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:51722400-51723200	Enhancers	Fetal Thymus	thymus
30	chr13:51722400-51723200	Enhancers	Lung	lung
31	chr13:51722400-51723800	Enhancers	Cortex derived primary cultured neurospheres	brain

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