Variant report

Variant	rs12113707
Chromosome Location	chr7:33116245-33116246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33115989..33118966-chr7:33124187..33126012,2	K562	blood:
2	chr7:33113774..33116315-chr7:33120696..33122656,2	K562	blood:
3	chr7:33100318..33104291-chr7:33113620..33117724,6	MCF-7	breast:
4	chr7:33114979..33116897-chr7:33118919..33120875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12667900	0.88[CHB][hapmap];0.88[CHD][hapmap]
rs12668520	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12672785	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs16881927	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs16881929	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs67595817	0.89[AFR][1000 genomes]
rs6946062	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6963198	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6965006	0.80[AMR][1000 genomes]
rs6976843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12113707	BBS9	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33103400-33116400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:33113000-33119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:33115000-33119200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:33115200-33116400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:33115200-33116600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:33115600-33116600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:33115600-33116800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:33115800-33116400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:33115800-33116400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:33115800-33117600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:33115800-33117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:33115800-33118000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:33115800-33148000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:33116000-33117600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:33116000-33117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:33116200-33116600	Enhancers	HMEC	breast
17	chr7:33116200-33117000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:33116200-33117000	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:33116200-33117400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr7:33116200-33117600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:33116200-33117600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:33116200-33117600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:33116200-33117600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:33116200-33117600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:33116200-33119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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