Variant report

Variant	rs1275359
Chromosome Location	chr13:30144853-30144854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30139726..30141978-chr13:30142351..30145103,3	MCF-7	breast:
2	chr13:30140340..30147664-chr13:30167192..30171255,11	MCF-7	breast:
3	chr13:30141734..30150637-chr13:30164575..30171336,12	MCF-7	breast:
4	chr13:30137385..30139177-chr13:30144253..30145908,2	MCF-7	breast:
5	chr13:30124978..30127325-chr13:30144094..30146175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs166827	1.00[AMR][1000 genomes]
rs280917	1.00[AMR][1000 genomes]
rs280927	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280929	1.00[AMR][1000 genomes]
rs280932	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs280935	1.00[AMR][1000 genomes]
rs280937	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs280950	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs280954	1.00[AMR][1000 genomes]
rs7986532	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30125000-30147400	Weak transcription	A549	lung
2	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
3	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
4	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
5	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
6	chr13:30127600-30156400	Weak transcription	Lung	lung
7	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
8	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr13:30128000-30146800	Weak transcription	HSMMtube	muscle
10	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:30128200-30146000	Weak transcription	Hela-S3	cervix
12	chr13:30128200-30147400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:30128200-30147400	Weak transcription	Thymus	Thymus
14	chr13:30128600-30146600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:30128600-30147400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
19	chr13:30131400-30147800	Weak transcription	Fetal Brain Female	brain
20	chr13:30131800-30147600	Weak transcription	GM12878-XiMat	blood
21	chr13:30136400-30146800	Weak transcription	NHLF	lung
22	chr13:30137200-30151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:30137400-30147400	Weak transcription	Brain Angular Gyrus	brain
24	chr13:30137800-30147000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:30138600-30147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:30138600-30154000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr13:30138800-30146800	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:30138800-30155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr13:30138800-30159800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:30139000-30147000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:30139600-30147400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr13:30139800-30147200	Weak transcription	Osteobl	bone
33	chr13:30140000-30146000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:30140600-30149200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:30140800-30145000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:30141200-30147600	Weak transcription	Small Intestine	intestine
37	chr13:30141600-30145000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:30141600-30147000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr13:30142200-30146800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:30142400-30147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:30142400-30147400	Weak transcription	Adipose Nuclei	Adipose
42	chr13:30142800-30147400	Weak transcription	K562	blood
43	chr13:30143200-30145000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:30143200-30151200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:30143600-30145000	Genic enhancers	NHEK	skin
46	chr13:30143600-30147000	Strong transcription	Dnd41	blood
47	chr13:30143600-30148000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:30143600-30149400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:30143800-30145200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:30143800-30145600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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