Variant report

Variant	rs12722641
Chromosome Location	chr10:6088733-6088734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6076656..6079069-chr10:6086121..6089076,2	MCF-7	breast:
2	chr10:6068386..6070210-chr10:6087289..6089702,2	K562	blood:
3	chr10:6088691..6090332-chr10:6090960..6092832,2	K562	blood:
4	chr10:6087719..6090025-chr10:6099412..6101366,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10795823	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11256269	1.00[AMR][1000 genomes]
rs12250725	1.00[AMR][1000 genomes]
rs12260184	1.00[AMR][1000 genomes]
rs12261085	1.00[AMR][1000 genomes]
rs12261535	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12722663	1.00[AMR][1000 genomes]
rs12722667	1.00[AMR][1000 genomes]
rs12722670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722674	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722698	0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs3891620	1.00[MEX][hapmap]
rs4237413	1.00[MEX][hapmap]
rs4509667	1.00[AMR][1000 genomes]
rs4749956	1.00[AMR][1000 genomes]
rs4749964	1.00[AMR][1000 genomes]
rs4749993	1.00[AMR][1000 genomes]
rs60269484	1.00[AMR][1000 genomes]
rs6602367	1.00[AMR][1000 genomes]
rs7897471	1.00[AMR][1000 genomes]
rs7901642	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7907241	1.00[AMR][1000 genomes]
rs7910558	1.00[AMR][1000 genomes]
rs943123	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv894814	chr10:6078032-6100725	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12722641	CCDC19	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6085600-6092000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr10:6085800-6092400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:6086000-6088800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:6086000-6093000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr10:6086200-6088800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr10:6086400-6089600	Enhancers	Primary hematopoietic stem cells	blood
7	chr10:6086400-6090800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:6087200-6091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:6087400-6088800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:6087400-6089400	Enhancers	Primary T cells from cord blood	blood
11	chr10:6087600-6088800	Bivalent Enhancer	Fetal Thymus	thymus
12	chr10:6087600-6089400	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:6087600-6092000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:6087800-6088800	Bivalent Enhancer	Thymus	Thymus
15	chr10:6087800-6089000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr10:6087800-6089400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:6087800-6092200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:6087800-6092600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr10:6088000-6089800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:6088000-6091800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:6088200-6088800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr10:6088200-6088800	Enhancers	GM12878-XiMat	blood
23	chr10:6088200-6089400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr10:6088200-6089400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:6088200-6090600	Weak transcription	Primary B cells from cord blood	blood
26	chr10:6088200-6091800	Weak transcription	Spleen	Spleen
27	chr10:6088200-6092200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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