Variant report

Variant	rs11704551
Chromosome Location	chr22:29777504-29777505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29774954..29777707-chr22:29779123..29781815,2	K562	blood:
2	chr22:29775197..29780621-chr22:29782246..29785885,8	K562	blood:
3	chr22:29777011..29779930-chr22:29821335..29822984,2	K562	blood:
4	chr22:29776140..29778611-chr22:29995991..29998407,2	K562	blood:

Variant related genes	Relation type
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11702906	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703897	1.00[ASN][1000 genomes]
rs11705446	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131184	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs131190	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs140065	1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs174760	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs174768	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs174772	0.81[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894414	0.81[ASW][hapmap];0.86[CEU][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2231398	1.00[JPT][hapmap]
rs2518683	1.00[CHD][hapmap]
rs2857464	0.88[ASN][1000 genomes]
rs34680030	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823033	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997460	1.00[JPT][hapmap]
rs7285200	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8140836	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];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8141229	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv459868	chr22:29767925-29807855	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv459869	chr22:29767925-29807855	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv588882	chr22:29767925-29807855	Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11704551	CCDC117	cis	lymphoblastoid	seeQTL
rs11704551	PITPNB	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
5	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
7	chr22:29755600-29778600	Weak transcription	Fetal Lung	lung
8	chr22:29756000-29779800	Weak transcription	Brain Germinal Matrix	brain
9	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
10	chr22:29756000-29783800	Weak transcription	Ovary	ovary
11	chr22:29756200-29779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:29765400-29782600	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29765400-29783600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:29765600-29783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:29765600-29783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29765800-29778600	Weak transcription	A549	lung
18	chr22:29765800-29782800	Weak transcription	NHDF-Ad	bronchial
19	chr22:29766200-29783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:29767200-29783600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:29767400-29778000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29767400-29779800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:29767400-29779800	Weak transcription	Brain Angular Gyrus	brain
24	chr22:29767400-29783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr22:29767400-29783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:29768000-29783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:29768000-29783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr22:29769200-29783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:29770400-29782600	Strong transcription	Primary T cells from cord blood	blood
30	chr22:29770800-29777800	Strong transcription	Fetal Stomach	stomach
31	chr22:29772400-29778600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr22:29772400-29779800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:29772400-29783000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:29772600-29779800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:29772600-29779800	Weak transcription	NHLF	lung
36	chr22:29772600-29781400	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:29772600-29782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:29772600-29783400	Weak transcription	HSMMtube	muscle
39	chr22:29772800-29778600	Weak transcription	NH-A	brain
40	chr22:29772800-29782800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:29773000-29777600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:29773000-29778600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr22:29773000-29779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:29773600-29778400	Weak transcription	Aorta	Aorta
45	chr22:29773600-29783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:29773600-29783600	Weak transcription	HSMM	muscle
47	chr22:29773800-29778600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:29774000-29781400	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr22:29774000-29783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:29774200-29778600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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