Variant report

Variant	rs59260312
Chromosome Location	chr13:30147619-30147620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30145938..30148491-chr13:30169335..30172186,4	K562	blood:
2	chr13:30140340..30147664-chr13:30167192..30171255,11	MCF-7	breast:
3	chr13:30146852..30149367-chr13:30152203..30154425,2	MCF-7	breast:
4	chr13:30141734..30150637-chr13:30164575..30171336,12	MCF-7	breast:
5	chr13:30102776..30104828-chr13:30146774..30149345,2	K562	blood:
6	chr13:30147177..30149389-chr13:30151174..30153674,3	K562	blood:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17073704	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984029	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1984030	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853211	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57340570	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61508227	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490411	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6490412	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7318650	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8002439	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs928352	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928353	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
3	chr13:30127600-30156400	Weak transcription	Lung	lung
4	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
8	chr13:30131400-30147800	Weak transcription	Fetal Brain Female	brain
9	chr13:30137200-30151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:30138600-30154000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:30138800-30155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:30138800-30159800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:30140600-30149200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:30143200-30151200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:30143600-30148000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:30143600-30149400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:30144200-30151200	Weak transcription	Fetal Stomach	stomach
18	chr13:30144400-30152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:30144400-30155600	Weak transcription	HMEC	breast
20	chr13:30144600-30154000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:30144800-30148600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:30144800-30150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:30144800-30154000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:30145000-30150800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:30145000-30151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:30145600-30147800	Enhancers	Left Ventricle	heart
27	chr13:30145600-30148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:30146000-30148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:30146000-30148200	Enhancers	Fetal Muscle Trunk	muscle
30	chr13:30146000-30148200	Enhancers	Gastric	stomach
31	chr13:30146000-30154000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:30146200-30147800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:30146200-30147800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:30146200-30147800	Enhancers	Right Atrium	heart
35	chr13:30146200-30147800	Enhancers	Right Ventricle	heart
36	chr13:30146200-30147800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr13:30146200-30148200	Enhancers	Esophagus	oesophagus
38	chr13:30146200-30148400	Enhancers	Duodenum Mucosa	Duodenum
39	chr13:30146200-30149400	Enhancers	Pancreas	Pancrea
40	chr13:30146400-30147800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:30146400-30154000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:30146400-30155400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:30146600-30148200	Enhancers	Stomach Mucosa	stomach
44	chr13:30146600-30148400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr13:30146600-30149200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:30146800-30148200	Enhancers	Fetal Heart	heart
47	chr13:30146800-30148200	Enhancers	Fetal Muscle Leg	muscle
48	chr13:30146800-30148200	Enhancers	HSMM	muscle
49	chr13:30146800-30148200	Enhancers	HSMMtube	muscle
50	chr13:30146800-30148200	Enhancers	NHLF	lung

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