Variant report

Variant	rs17074146
Chromosome Location	chr13:50930818-50930819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50697643..50701953-chr13:50927459..50931609,5	MCF-7	breast:
2	chr13:50921012..50924496-chr13:50928221..50931667,4	MCF-7	breast:
3	chr13:50929110..50931942-chr13:50932169..50935113,3	MCF-7	breast:
4	chr13:50929441..50932225-chr13:50939480..50941358,2	MCF-7	breast:
5	chr13:50697804..50699328-chr13:50929557..50931227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1149863	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1149864	0.98[ASN][1000 genomes]
rs1149869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1262903	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1269265	0.95[ASN][1000 genomes]
rs1269273	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1269275	0.97[ASN][1000 genomes]
rs1924374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532968	0.93[ASN][1000 genomes]
rs59065901	0.82[AFR][1000 genomes]
rs806305	0.86[ASN][1000 genomes]
rs806309	0.87[ASN][1000 genomes]
rs806354	0.81[ASN][1000 genomes]
rs806356	0.82[ASN][1000 genomes]
rs806359	0.81[ASN][1000 genomes]
rs811714	0.86[ASN][1000 genomes]
rs9535442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562961	0.87[ASN][1000 genomes]
rs9568394	0.91[ASN][1000 genomes]
rs9568395	0.86[ASN][1000 genomes]
rs9568396	0.85[ASN][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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS 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 lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50926600-50933000	Enhancers	Liver	Liver
2	chr13:50926600-50934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:50927600-50931400	Weak transcription	Left Ventricle	heart
4	chr13:50927600-50931400	Weak transcription	Psoas Muscle	Psoas
5	chr13:50927600-50931400	Weak transcription	HepG2	liver
6	chr13:50927800-50931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50928400-50931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:50928400-50931600	Weak transcription	Aorta	Aorta
9	chr13:50928400-50932400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr13:50928600-50931000	Weak transcription	Fetal Lung	lung
11	chr13:50928600-50931000	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:50928600-50931200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:50928600-50931200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:50928600-50931200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:50928600-50931200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:50928600-50931200	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:50928600-50931200	Weak transcription	Fetal Kidney	kidney
18	chr13:50928600-50931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:50928600-50931200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:50928600-50931200	Weak transcription	NH-A	brain
21	chr13:50928600-50931200	Weak transcription	Osteobl	bone
22	chr13:50928600-50931400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:50928600-50931400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:50928600-50931400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:50928600-50931400	Weak transcription	HSMM	muscle
26	chr13:50928600-50932400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr13:50928800-50931200	Weak transcription	NHLF	lung
28	chr13:50928800-50931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:50929000-50931600	Weak transcription	HSMMtube	muscle
30	chr13:50929200-50934200	Weak transcription	Lung	lung
31	chr13:50929200-50934400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:50929400-50931000	Weak transcription	NHDF-Ad	bronchial
33	chr13:50929400-50931400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:50929400-50932400	Weak transcription	Thymus	Thymus
35	chr13:50929600-50932400	Weak transcription	Dnd41	blood
36	chr13:50929600-50932600	Weak transcription	Primary B cells from cord blood	blood
37	chr13:50929800-50933800	Weak transcription	Primary T cells from cord blood	blood
38	chr13:50930000-50932800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:50930000-50935800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr13:50930200-50931200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:50930200-50931200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:50930200-50932400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr13:50930200-50933600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:50930200-50939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:50930200-50939600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr13:50930400-50931400	Weak transcription	Spleen	Spleen
47	chr13:50930400-50932200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr13:50930400-50932400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr13:50930400-50932600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:50930400-50932600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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