Variant report

Variant	rs12314700
Chromosome Location	chr12:122490043-122490044
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122487454..122491014-chr12:122493192..122496631,4	K562	blood:
2	chr12:122487767..122490399-chr12:122506061..122507561,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11043307	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11057403	0.84[EUR][1000 genomes]
rs12299752	0.85[EUR][1000 genomes]
rs1916334	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28384349	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28478029	0.84[EUR][1000 genomes]
rs28622891	0.83[EUR][1000 genomes]
rs28643366	0.93[EUR][1000 genomes]
rs28707600	0.85[EUR][1000 genomes]
rs4132932	0.84[EUR][1000 genomes]
rs4132933	0.87[EUR][1000 genomes]
rs73217773	0.85[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
5	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
6	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
9	chr12:122467800-122500200	Strong transcription	Dnd41	blood
10	chr12:122468200-122492800	Weak transcription	NHDF-Ad	bronchial
11	chr12:122470000-122492400	Strong transcription	Fetal Thymus	thymus
12	chr12:122470000-122492400	Weak transcription	K562	blood
13	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
14	chr12:122473600-122492800	Weak transcription	Esophagus	oesophagus
15	chr12:122474000-122496800	Weak transcription	HMEC	breast
16	chr12:122474400-122492200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:122474400-122496600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:122474400-122500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:122474600-122492400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:122475200-122501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:122479200-122493200	Weak transcription	Gastric	stomach
22	chr12:122479400-122492400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:122479400-122500600	Weak transcription	Small Intestine	intestine
24	chr12:122479800-122491600	Strong transcription	Fetal Intestine Small	intestine
25	chr12:122482200-122491200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:122482600-122492200	Weak transcription	Placenta	Placenta
27	chr12:122482800-122492400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:122483400-122490400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:122483600-122492800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:122483600-122500200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:122483800-122492800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:122484400-122490200	Weak transcription	Brain Substantia Nigra	brain
33	chr12:122484400-122492600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122484600-122492200	Weak transcription	Fetal Lung	lung
35	chr12:122484600-122492400	Weak transcription	Colonic Mucosa	Colon
36	chr12:122484600-122492400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:122484600-122493000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:122484800-122492600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:122484800-122492600	Weak transcription	NHEK	skin
40	chr12:122484800-122493000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:122484800-122495200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:122485000-122492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:122485000-122494200	Weak transcription	Brain Angular Gyrus	brain
44	chr12:122485800-122492200	Weak transcription	Brain Anterior Caudate	brain
45	chr12:122486000-122492800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:122486600-122492600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:122487400-122491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:122487800-122492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:122488000-122492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:122488000-122492800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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