Variant report

Variant	rs12101791
Chromosome Location	chr15:40983680-40983681
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	chr15:40983270-40983741	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40983418..40985214-chr15:40986954..40989432,2	K562	blood:
2	chr15:40982126..40985382-chr15:40985435..40988081,4	MCF-7	breast:

Variant related genes	Relation type
RAD51	TF binding region
ENSG00000245849	Chromatin interaction
ENSG00000051180	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16970960	1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28588007	1.00[AMR][1000 genomes]
rs34445444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162522	1.00[AMR][1000 genomes]
rs7182689	1.00[AMR][1000 genomes]
rs8040302	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv529030	chr15:40956471-41012695	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv904100	chr15:40959624-40994706	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40913800-40986000	Weak transcription	A549	lung
2	chr15:40945000-40984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40971200-40985800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:40971600-40984000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:40971600-40984200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr15:40971600-40985600	Weak transcription	Dnd41	blood
7	chr15:40971600-40985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:40971800-40983800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr15:40971800-40984000	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:40971800-40984200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:40971800-40985800	Weak transcription	Brain Angular Gyrus	brain
12	chr15:40972400-40984600	Weak transcription	Placenta	Placenta
13	chr15:40972600-40984200	Weak transcription	Spleen	Spleen
14	chr15:40972800-40984000	Weak transcription	HepG2	liver
15	chr15:40973200-40985600	Weak transcription	Primary B cells from cord blood	blood
16	chr15:40973400-40985800	Weak transcription	GM12878-XiMat	blood
17	chr15:40973600-40984000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr15:40976200-40984000	Weak transcription	Primary T cells from cord blood	blood
19	chr15:40976400-40984000	Weak transcription	Brain Anterior Caudate	brain
20	chr15:40977000-40985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:40977200-40985800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:40977400-40985800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:40977400-40986200	Weak transcription	Esophagus	oesophagus
24	chr15:40977800-40984200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:40978000-40984000	Weak transcription	Liver	Liver
26	chr15:40978000-40984200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:40978000-40985800	Weak transcription	Gastric	stomach
28	chr15:40978000-40986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:40978200-40984000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:40978200-40984000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:40978200-40984200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:40978200-40985800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:40978200-40986000	Weak transcription	HSMMtube	muscle
34	chr15:40978400-40984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:40978600-40986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:40978600-40986000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:40978800-40984000	Weak transcription	Fetal Thymus	thymus
38	chr15:40978800-40984000	Weak transcription	Right Ventricle	heart
39	chr15:40979000-40986000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:40979400-40986000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:40979400-40986000	Weak transcription	HUVEC	blood vessel
42	chr15:40979600-40984000	Weak transcription	Osteobl	bone
43	chr15:40979600-40984200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:40979600-40984400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:40979600-40986000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:40979800-40985800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:40979800-40986000	Weak transcription	Left Ventricle	heart
48	chr15:40980400-40984000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:40980400-40985600	Weak transcription	Pancreas	Pancrea
50	chr15:40980400-40985800	Weak transcription	Fetal Brain Male	brain

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