Variant report

Variant	rs1316314
Chromosome Location	chr12:117558231-117558232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117462978..117464343-chr12:117556869..117558882,20	K562	blood:
2	chr12:117140690..117141624-chr12:117557280..117558280,3	K562	blood:
3	chr12:117463072..117464125-chr12:117557237..117558458,16	MCF-7	breast:
4	chr12:117557112..117559905-chr22:42664241..42667013,2	MCF-7	breast:
5	chr12:117463086..117464021-chr12:117557211..117558240,9	MCF-7	breast:
6	chr12:117557753..117559433-chr12:117563152..117564669,2	K562	blood:
7	chr12:117556807..117559168-chr12:117564968..117567084,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182057	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10850761	0.81[EUR][1000 genomes]
rs11068343	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12227113	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1316314	TESC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117550600-117558800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:117550800-117559200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:117551600-117566000	Weak transcription	Spleen	Spleen
4	chr12:117553000-117563800	Weak transcription	Pancreas	Pancrea
5	chr12:117553400-117562600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:117555800-117559000	Enhancers	Hela-S3	cervix
7	chr12:117556200-117559600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:117556800-117558400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:117556800-117558600	Weak transcription	Brain Germinal Matrix	brain
10	chr12:117556800-117559400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:117557000-117558400	Weak transcription	Fetal Brain Male	brain
12	chr12:117557000-117558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117557200-117559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:117557400-117559400	Weak transcription	Lung	lung
15	chr12:117557400-117562600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:117557400-117562800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:117557400-117565800	Weak transcription	Gastric	stomach
18	chr12:117557600-117558400	Weak transcription	Fetal Heart	heart
19	chr12:117557600-117558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:117557600-117558800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:117557600-117558800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:117557600-117558800	Weak transcription	Right Ventricle	heart
23	chr12:117557600-117559200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:117557600-117559400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:117557600-117559400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:117557600-117561200	Weak transcription	Right Atrium	heart
27	chr12:117557600-117561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:117557600-117562200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:117557600-117562200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:117557600-117564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:117557800-117558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:117557800-117559400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:117557800-117559400	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:117557800-117561800	Weak transcription	HepG2	liver
35	chr12:117557800-117562200	Weak transcription	Fetal Thymus	thymus
36	chr12:117557800-117562400	Weak transcription	Dnd41	blood
37	chr12:117558000-117558400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:117558000-117558600	Weak transcription	A549	lung
39	chr12:117558200-117559800	Enhancers	Left Ventricle	heart

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