Variant report

Variant	rs2292512
Chromosome Location	chr3:113329886-113329887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:113329876-113330003	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:113329873-113330021	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113324511..113326234-chr3:113328432..113330968,2	MCF-7	breast:

Variant related genes	Relation type
SIDT1	TF binding region
ENSG00000072858	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10934239	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs10934240	0.81[AMR][1000 genomes]
rs11914863	0.86[AMR][1000 genomes]
rs11918910	0.86[AMR][1000 genomes]
rs11920913	0.81[AMR][1000 genomes]
rs11921407	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs12486414	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs12489192	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12490048	1.00[AMR][1000 genomes]
rs12490651	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12491540	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12492290	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12492542	1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12492783	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12493602	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs12493935	0.81[AMR][1000 genomes]
rs12494777	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12495298	0.86[AMR][1000 genomes]
rs12495713	0.93[AMR][1000 genomes]
rs12496604	0.93[AMR][1000 genomes]
rs12496617	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12497754	0.93[AMR][1000 genomes]
rs16861230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16861233	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16861235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16861331	0.93[AMR][1000 genomes]
rs2566972	0.85[MEX][hapmap];0.81[AMR][1000 genomes]
rs2603791	0.81[AMR][1000 genomes]
rs3773686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57010522	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113285200-113343400	Weak transcription	Small Intestine	intestine
2	chr3:113317200-113330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:113320400-113333200	Weak transcription	Fetal Intestine Large	intestine
4	chr3:113320400-113345600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:113320800-113347600	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr3:113321200-113331600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:113321200-113333000	Weak transcription	Spleen	Spleen
8	chr3:113321200-113349200	Weak transcription	Brain Angular Gyrus	brain
9	chr3:113321200-113349600	Weak transcription	Lung	lung
10	chr3:113322600-113348600	Weak transcription	Colonic Mucosa	Colon
11	chr3:113323200-113342400	Weak transcription	Pancreas	Pancrea
12	chr3:113326000-113334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:113326000-113334600	Weak transcription	Fetal Lung	lung
14	chr3:113326200-113335600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:113326200-113340000	Weak transcription	Fetal Stomach	stomach
16	chr3:113326200-113340600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr3:113326400-113332600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:113326600-113330800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:113326600-113332000	Weak transcription	Psoas Muscle	Psoas
20	chr3:113326600-113332200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:113326600-113335600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:113326600-113340600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:113326600-113350000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr3:113326800-113335400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:113326800-113340400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:113326800-113344800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:113326800-113349200	Strong transcription	GM12878-XiMat	blood
28	chr3:113326800-113350200	Strong transcription	Primary T cells from cord blood	blood
29	chr3:113327200-113338400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:113327400-113339200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:113327400-113340400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:113327600-113338400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:113327800-113330000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:113327800-113330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:113328000-113330400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:113328400-113335200	Strong transcription	Fetal Thymus	thymus
37	chr3:113329000-113332200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:113329000-113334400	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:113329200-113333000	Strong transcription	Primary B cells from cord blood	blood
40	chr3:113329400-113336400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:113329600-113330400	Strong transcription	Thymus	Thymus
42	chr3:113329800-113330000	Enhancers	Gastric	stomach
43	chr3:113329800-113331400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr3:113329800-113332600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:113329800-113334200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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