Variant report

Variant	rs12369319
Chromosome Location	chr12:12622025-12622026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12550464..12553838-chr12:12621141..12625480,5	MCF-7	breast:
2	chr12:12601431..12605552-chr12:12620970..12623954,4	MCF-7	breast:
3	chr12:12618969..12622557-chr12:12713241..12717041,4	MCF-7	breast:
4	chr12:12621139..12623205-chr12:12630638..12633247,2	K562	blood:
5	chr12:12620353..12622386-chr12:12763745..12766320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000271370	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10845553	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10845554	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10845557	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10845562	0.81[AMR][1000 genomes]
rs11054923	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11054925	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11054926	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs736107	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs888197	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
5	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
6	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:12609000-12623400	Weak transcription	A549	lung
9	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:12609800-12628400	Weak transcription	NHLF	lung
11	chr12:12610800-12623000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:12610800-12623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
14	chr12:12611000-12627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:12611000-12628600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:12611200-12627400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:12611200-12629000	Weak transcription	Hela-S3	cervix
18	chr12:12613400-12625200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:12613400-12627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:12614600-12622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:12614600-12627400	Weak transcription	Spleen	Spleen
22	chr12:12614800-12622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:12615400-12626600	Weak transcription	GM12878-XiMat	blood
24	chr12:12616400-12622800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:12616400-12627400	Weak transcription	HepG2	liver
26	chr12:12616400-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:12616600-12624600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:12617000-12628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:12617400-12622400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:12617400-12623400	Strong transcription	Fetal Intestine Small	intestine
31	chr12:12617800-12622600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr12:12618200-12622600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:12618200-12623600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:12618400-12626800	Weak transcription	K562	blood
35	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
36	chr12:12618600-12624200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:12618800-12626600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:12618800-12626800	Weak transcription	Colonic Mucosa	Colon
39	chr12:12618800-12629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:12619000-12622400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:12619000-12626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:12619000-12629200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:12619000-12634000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:12619400-12622800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:12619400-12629200	Weak transcription	Right Ventricle	heart
46	chr12:12619600-12622600	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr12:12619600-12622600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:12619600-12626600	Weak transcription	Liver	Liver
49	chr12:12619800-12627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:12619800-12627600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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