Variant report

Variant	rs17074100
Chromosome Location	chr13:30516814-30516815
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30513452..30517431-chr13:30524367..30526986,3	MCF-7	breast:
2	chr13:30494281..30495981-chr13:30514922..30517429,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1041577	1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.95[ASN][1000 genomes]
rs12583831	0.98[ASN][1000 genomes]
rs1325368	0.92[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs17074118	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs17074120	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs2388239	0.83[CHD][hapmap]
rs3843677	0.83[CHD][hapmap]
rs3843678	0.83[CHD][hapmap]
rs4769782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4769783	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs566495	0.90[MEX][hapmap];0.91[TSI][hapmap]
rs61138957	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634413	0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[ASN][1000 genomes]
rs646917	0.80[CHB][hapmap];0.90[ASN][1000 genomes]
rs7320271	0.84[CHB][hapmap]
rs7320355	0.83[CHD][hapmap];0.89[MEX][hapmap]
rs7339208	0.90[ASN][1000 genomes]
rs7988422	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs927733	0.81[CHB][hapmap]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17074100	UBL3	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30510800-30521600	Weak transcription	Pancreas	Pancrea
2	chr13:30512400-30518400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:30513000-30517200	Weak transcription	Primary T cells from cord blood	blood
4	chr13:30514000-30517600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:30514000-30518000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:30514200-30517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:30515200-30518000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr13:30515400-30517000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:30515600-30517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:30515800-30517000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr13:30515800-30517800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:30516400-30517000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr13:30516400-30517200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:30516400-30517200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr13:30516400-30517400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:30516400-30518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:30516400-30518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:30516600-30518200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:30516600-30518600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:30516600-30518600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:30516600-30518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30516600-30519000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr13:30516800-30517000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:30516800-30518400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr13:30516800-30518400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:30516800-30518600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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