Variant report

Variant	rs12308975
Chromosome Location	chr12:123563880-123563881
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123560295..123563384-chr12:123563700..123566062,4	K562	blood:
2	chr12:123560295..123563017-chr12:123563846..123566062,3	K562	blood:
3	chr12:123558728..123560764-chr12:123563794..123566553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12304521	0.88[AFR][1000 genomes]
rs12305187	1.00[AMR][1000 genomes]
rs12318326	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123557400-123565600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:123560200-123570400	Weak transcription	Aorta	Aorta
3	chr12:123560600-123574200	Weak transcription	Gastric	stomach
4	chr12:123560800-123568000	Weak transcription	Colonic Mucosa	Colon
5	chr12:123561000-123578800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:123561400-123568400	Weak transcription	HSMMtube	muscle
8	chr12:123561600-123566400	Weak transcription	HMEC	breast
9	chr12:123561600-123566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:123561600-123568200	Weak transcription	NHEK	skin
11	chr12:123561600-123569800	Weak transcription	HSMM	muscle
12	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
13	chr12:123561800-123565000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:123561800-123565400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:123561800-123566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:123561800-123566600	Weak transcription	Hela-S3	cervix
17	chr12:123561800-123568000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:123562000-123568000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:123562000-123568400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:123562000-123568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:123562000-123569000	Weak transcription	HepG2	liver
22	chr12:123562000-123569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:123562000-123576200	Weak transcription	Primary T cells from cord blood	blood
24	chr12:123562200-123566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:123562200-123567400	Weak transcription	A549	lung
26	chr12:123562200-123568200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:123562200-123572600	Weak transcription	K562	blood
28	chr12:123562400-123564800	Enhancers	Fetal Brain Male	brain
29	chr12:123562400-123565000	Weak transcription	Fetal Heart	heart
30	chr12:123562400-123567200	Weak transcription	Liver	Liver
31	chr12:123562400-123568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:123562600-123567200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:123562600-123568200	Weak transcription	Placenta	Placenta
35	chr12:123562600-123568400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:123562800-123568000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:123563000-123566400	Weak transcription	Right Atrium	heart
38	chr12:123563000-123566600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:123563200-123565800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:123563200-123566800	Enhancers	Fetal Brain Female	brain
41	chr12:123563200-123568200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:123563400-123566600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:123563400-123567200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:123563400-123568200	Weak transcription	Brain Anterior Caudate	brain
45	chr12:123563400-123568200	Weak transcription	Fetal Stomach	stomach
46	chr12:123563600-123568200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:123563600-123570200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:123563800-123565000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:123563800-123565000	Weak transcription	Left Ventricle	heart
50	chr12:123563800-123565000	Weak transcription	Right Ventricle	heart

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