Variant report

Variant	rs12720067
Chromosome Location	chr7:87169356-87169357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87167908..87169679-chr7:87174483..87176723,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10225473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10244266	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10246696	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10248420	0.87[CEU][hapmap]
rs10268314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10274441	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10274587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280623	0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs10808071	0.96[GIH][hapmap]
rs11760837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11972405	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11983225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202171	0.88[JPT][hapmap]
rs1202175	0.88[JPT][hapmap]
rs1202180	0.88[JPT][hapmap]
rs1202181	0.88[JPT][hapmap]
rs1202182	0.88[JPT][hapmap]
rs1202185	0.88[JPT][hapmap]
rs1202186	0.88[JPT][hapmap]
rs12334183	0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[ASN][1000 genomes]
rs1882479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1989830	0.88[JPT][hapmap]
rs2032583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235015	0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[ASN][1000 genomes]
rs2235040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373589	0.87[CEU][hapmap]
rs28371078	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28401781	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28681479	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28718458	0.83[ASN][1000 genomes]
rs4148739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148742	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4728706	1.00[LWK][hapmap]
rs55912869	0.89[ASN][1000 genomes]
rs56243536	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60412009	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66867614	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7787082	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12720067	KIAA1324L	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87135400-87198000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:87138400-87173400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:87138800-87185000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:87139400-87211000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:87139600-87197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:87141800-87172800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:87144600-87215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:87144800-87174000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:87144800-87186600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:87146200-87228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:87146400-87173000	Weak transcription	Fetal Intestine Large	intestine
12	chr7:87152800-87185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:87155600-87184800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:87157600-87183800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:87163000-87183600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:87164000-87173000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:87164200-87172800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:87165800-87175600	Strong transcription	Primary T cells from cord blood	blood
19	chr7:87166600-87170800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:87167400-87179400	Weak transcription	Gastric	stomach
21	chr7:87168000-87172400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:87168000-87173400	Weak transcription	HepG2	liver
23	chr7:87168000-87180600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:87168200-87170400	Weak transcription	Liver	Liver
25	chr7:87168400-87170800	Weak transcription	Placenta	Placenta
26	chr7:87168600-87171400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:87168600-87180800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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