Variant report

Variant	rs58389257
Chromosome Location	chr12:12324244-12324245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12321589..12323162-chr12:12323164..12326099,2	K562	blood:
2	chr12:12317349..12320437-chr12:12321643..12324297,3	MCF-7	breast:
3	chr12:12323664..12325480-chr12:12418997..12421104,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

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

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

rs_ID	r²[population]
rs11054765	1.00[EUR][1000 genomes]
rs12313063	1.00[EUR][1000 genomes]
rs73293337	1.00[EUR][1000 genomes]
rs74061124	1.00[EUR][1000 genomes]
rs74061127	1.00[EUR][1000 genomes]
rs74061140	1.00[EUR][1000 genomes]
rs74061143	1.00[EUR][1000 genomes]
rs74061150	1.00[EUR][1000 genomes]
rs74061155	1.00[EUR][1000 genomes]
rs74061158	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:12272400-12325200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
7	chr12:12288200-12342800	Weak transcription	K562	blood
8	chr12:12302200-12325000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:12302200-12338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:12303800-12335600	Weak transcription	Right Ventricle	heart
11	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:12306800-12325200	Weak transcription	Small Intestine	intestine
13	chr12:12312000-12325000	Weak transcription	Aorta	Aorta
14	chr12:12312000-12325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:12312000-12332600	Weak transcription	Dnd41	blood
16	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:12312200-12325000	Weak transcription	HMEC	breast
18	chr12:12312200-12334000	Weak transcription	Pancreas	Pancrea
19	chr12:12312200-12334600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:12312200-12338000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
23	chr12:12312400-12325200	Weak transcription	Primary T cells from cord blood	blood
24	chr12:12312400-12332400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:12312400-12332600	Weak transcription	Fetal Thymus	thymus
26	chr12:12312800-12324800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:12312800-12337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:12313800-12325000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:12314000-12325000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:12314000-12331400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:12314000-12333200	Weak transcription	NH-A	brain
32	chr12:12314000-12335600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:12314000-12336000	Weak transcription	Adipose Nuclei	Adipose
34	chr12:12314200-12324800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:12314200-12324800	Weak transcription	NHEK	skin
36	chr12:12314200-12325000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:12314200-12325000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:12314200-12325200	Weak transcription	NHDF-Ad	bronchial
39	chr12:12314200-12328000	Weak transcription	Ovary	ovary
40	chr12:12314400-12336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:12315200-12325200	Weak transcription	Fetal Heart	heart
42	chr12:12315400-12325000	Weak transcription	HSMM	muscle
43	chr12:12315400-12334000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:12315400-12340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:12315400-12371600	Weak transcription	Lung	lung
46	chr12:12315600-12325200	Weak transcription	Fetal Brain Female	brain
47	chr12:12315800-12324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:12316200-12332400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:12317400-12325000	Weak transcription	Osteobl	bone
50	chr12:12317400-12332400	Weak transcription	Fetal Muscle Leg	muscle

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