Variant report

Variant	rs12309848
Chromosome Location	chr12:12701513-12701514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12684001..12705444-chr12:12707828..12718639,50	MCF-7	breast:
2	chr12:12700692..12702262-chr12:12712341..12713958,2	K562	blood:
3	chr12:12697176..12699542-chr12:12700595..12704557,5	K562	blood:
4	chr12:12686997..12688577-chr12:12699822..12702095,2	K562	blood:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10845573	0.90[AMR][1000 genomes]
rs11054960	0.93[AMR][1000 genomes]
rs11054961	0.93[AMR][1000 genomes]
rs11054965	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12308450	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12309782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421828	0.93[AMR][1000 genomes]
rs58968872	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7138733	0.93[AMR][1000 genomes]
rs7295113	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309871	0.93[AMR][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	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
2	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
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12686600-12703200	Weak transcription	NH-A	brain
2	chr12:12686600-12708000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:12686600-12711400	Weak transcription	Esophagus	oesophagus
4	chr12:12686800-12712200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:12686800-12712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:12687200-12708000	Weak transcription	Right Ventricle	heart
7	chr12:12687200-12711600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:12687200-12712600	Weak transcription	Aorta	Aorta
9	chr12:12687400-12706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:12687400-12708000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:12687400-12708000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:12687400-12710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:12687400-12712600	Weak transcription	K562	blood
14	chr12:12688200-12710800	Weak transcription	Pancreas	Pancrea
15	chr12:12688200-12714400	Weak transcription	Gastric	stomach
16	chr12:12689600-12708000	Weak transcription	Ovary	ovary
17	chr12:12690600-12712600	Weak transcription	NHLF	lung
18	chr12:12690800-12710400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:12692000-12713000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:12692400-12713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:12692600-12701800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:12692600-12702200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:12692600-12702200	Weak transcription	Brain Substantia Nigra	brain
24	chr12:12692600-12708000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:12692600-12708000	Weak transcription	Small Intestine	intestine
26	chr12:12693200-12702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:12694000-12705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:12694200-12701800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:12694200-12703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:12694200-12708000	Weak transcription	Left Ventricle	heart
31	chr12:12694200-12712800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:12694400-12708000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:12694400-12712800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:12694400-12712800	Weak transcription	Fetal Stomach	stomach
35	chr12:12694600-12706400	Weak transcription	Placenta	Placenta
36	chr12:12694600-12710800	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:12694600-12711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:12694600-12711600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:12694600-12712600	Weak transcription	Fetal Thymus	thymus
40	chr12:12694800-12710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:12695200-12704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:12696200-12710400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:12696400-12702400	Enhancers	HepG2	liver
44	chr12:12696400-12703400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:12697600-12712600	Weak transcription	Thymus	Thymus
46	chr12:12697800-12701600	Weak transcription	HSMMtube	muscle
47	chr12:12698800-12712400	Weak transcription	NHEK	skin
48	chr12:12699000-12712600	Weak transcription	HUVEC	blood vessel
49	chr12:12699600-12702200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:12699600-12702200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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