Variant report

Variant	rs2191031
Chromosome Location	chr3:45910870-45910871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45900221..45902681-chr3:45909475..45912786,3	K562	blood:
2	chr3:45908212..45911820-chr3:45911912..45916177,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12054287	0.83[CHB][hapmap]
rs17078387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17078398	0.97[ASN][1000 genomes]
rs2236938	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2286486	0.80[CHD][hapmap]
rs3764864	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.84[ASN][1000 genomes]
rs3774641	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58819318	0.97[ASN][1000 genomes]
rs59104991	0.97[ASN][1000 genomes]
rs62245079	0.96[ASN][1000 genomes]
rs62245094	0.91[ASN][1000 genomes]
rs62245096	0.84[ASN][1000 genomes]
rs62245101	0.83[ASN][1000 genomes]
rs6441929	0.80[CHD][hapmap]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2191031	CDC25A	cis	cerebellum	SCAN
rs2191031	CCDC71	cis	cerebellum	SCAN
rs2191031	PRSS50	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45905400-45911000	Weak transcription	Esophagus	oesophagus
2	chr3:45906800-45912600	Enhancers	Fetal Thymus	thymus
3	chr3:45907000-45911200	Enhancers	Thymus	Thymus
4	chr3:45908800-45913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:45909000-45912800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:45909200-45913400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:45909400-45912400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:45909800-45913400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr3:45909800-45914400	Enhancers	Primary T cells from cord blood	blood
10	chr3:45910000-45911800	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:45910000-45913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:45910200-45911200	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr3:45910200-45911400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr3:45910200-45912000	Bivalent Enhancer	GM12878-XiMat	blood
15	chr3:45910200-45912400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:45910200-45913200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr3:45910200-45913400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:45910200-45913600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:45910400-45911200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:45910400-45913000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:45910400-45913400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr3:45910400-45913600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:45910400-45913600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:45910400-45913800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:45910600-45911400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:45910600-45912400	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:45910600-45912400	Enhancers	Duodenum Mucosa	Duodenum

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