Variant report

Variant	rs12584665
Chromosome Location	chr13:50072627-50072628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50071647..50073472-chr13:50180377..50183221,3	MCF-7	breast:
2	chr13:50070028..50071869-chr13:50072608..50075376,5	MCF-7	breast:
3	chr13:50016483..50020444-chr13:50068529..50072853,4	MCF-7	breast:
4	chr13:50016715..50020360-chr13:50068508..50074036,7	MCF-7	breast:
5	chr13:50071814..50073656-chr13:50077738..50079536,2	MCF-7	breast:
6	chr13:50072605..50075983-chr13:50085931..50088388,3	MCF-7	breast:
7	chr13:50061049..50067624-chr13:50068104..50073631,8	MCF-7	breast:
8	chr13:50071845..50075663-chr13:50092471..50095842,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136147	Chromatin interaction
ENSG00000102547	Chromatin interaction
ENSG00000136169	Chromatin interaction
ENSG00000236577	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12583618	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12584079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12584213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073053	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17073103	0.85[EUR][1000 genomes]
rs41305038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7322041	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv561613	chr13:50013622-50086266	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv561614	chr13:50042983-50086253	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv561615	chr13:50042983-50086266	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	esv2319655	chr13:50072324-50072790	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070200-50089200	Weak transcription	Fetal Brain Male	brain
2	chr13:50070600-50073400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:50070800-50072800	Weak transcription	Fetal Intestine Large	intestine
4	chr13:50070800-50073600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:50070800-50073600	Weak transcription	HMEC	breast
6	chr13:50070800-50074200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50070800-50074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:50070800-50074400	Weak transcription	Small Intestine	intestine
9	chr13:50070800-50074800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:50070800-50076200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:50070800-50076200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:50070800-50076400	Weak transcription	Fetal Lung	lung
13	chr13:50070800-50076800	Weak transcription	Left Ventricle	heart
14	chr13:50070800-50077000	Weak transcription	Gastric	stomach
15	chr13:50070800-50086600	Weak transcription	Psoas Muscle	Psoas
16	chr13:50070800-50086800	Weak transcription	Ovary	ovary
17	chr13:50070800-50087400	Weak transcription	Placenta	Placenta
18	chr13:50070800-50087600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:50070800-50087800	Weak transcription	Aorta	Aorta
20	chr13:50070800-50087800	Weak transcription	NHEK	skin
21	chr13:50070800-50088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:50070800-50088000	Weak transcription	Brain Anterior Caudate	brain
23	chr13:50070800-50088000	Weak transcription	Esophagus	oesophagus
24	chr13:50070800-50088000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
27	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
28	chr13:50071000-50072800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:50071000-50072800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:50071000-50072800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:50071000-50072800	Weak transcription	Fetal Heart	heart
32	chr13:50071000-50072800	Weak transcription	NHLF	lung
33	chr13:50071000-50073000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:50071000-50073000	Weak transcription	Primary T cells from cord blood	blood
35	chr13:50071000-50073000	Weak transcription	Osteobl	bone
36	chr13:50071000-50073200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr13:50071000-50073200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:50071000-50073400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr13:50071000-50073400	Weak transcription	NH-A	brain
40	chr13:50071000-50073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:50071000-50073600	Weak transcription	HSMM	muscle
42	chr13:50071000-50074200	Weak transcription	HSMMtube	muscle
43	chr13:50071000-50074400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr13:50071000-50074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:50071000-50074800	Weak transcription	Fetal Stomach	stomach
46	chr13:50071000-50075000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr13:50071000-50076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr13:50071000-50076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:50071000-50076800	Weak transcription	Adipose Nuclei	Adipose
50	chr13:50071000-50077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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