Variant report

Variant	rs34130214
Chromosome Location	chr6:28102378-28102379
allele	C/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28102205..28104062-chr6:28218585..28221101,2	K562	blood:
2	chr6:28100206..28102984-chr6:28103490..28105139,2	MCF-7	breast:
3	chr6:28101570..28102417-chr6:28323800..28324585,2	K562	blood:
4	chr6:28070967..28073548-chr6:28102137..28104053,2	K562	blood:
5	chr6:28100159..28103502-chr6:28106801..28111190,4	MCF-7	breast:
6	chr6:27865144..27866912-chr6:28101863..28104332,2	K562	blood:
7	chr6:28100726..28103259-chr6:28327481..28329415,2	K562	blood:
8	chr6:28101890..28102597-chr6:28323685..28324305,2	MCF-7	breast:
9	chr6:28101303..28102850-chr6:28114083..28116185,2	MCF-7	breast:
10	chr6:28101934..28104561-chr6:28232844..28236223,3	K562	blood:
11	chr6:28101979..28103666-chr6:28308282..28310464,2	K562	blood:
12	chr6:28101857..28106060-chr6:28315199..28321034,6	K562	blood:
13	chr6:28060201..28062614-chr6:28101846..28104486,2	K562	blood:
14	chr6:28101995..28104180-chr6:28650669..28652910,2	K562	blood:
15	chr6:28102102..28105139-chr6:28322040..28324310,3	K562	blood:
16	chr6:27859270..27861304-chr6:28100599..28103889,3	K562	blood:
17	chr6:28100317..28107200-chr6:28184436..28191088,8	MCF-7	breast:
18	chr6:28101159..28103233-chr6:28185780..28188258,2	K562	blood:
19	chr6:28099723..28110178-chr6:28301599..28306918,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197062	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000219891	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000233224	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12055625	0.85[ASN][1000 genomes]
rs1321504	0.85[ASN][1000 genomes]
rs1321505	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437126	1.00[ASN][1000 genomes]
rs13437444	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16893735	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs34712084	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734571	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3757188	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713138	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4713139	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713140	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735765	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180562	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348792	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9357064	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9366717	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9368560	0.90[ASN][1000 genomes]
rs9368561	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380064	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380069	0.80[EUR][1000 genomes]
rs9393889	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9393902	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9393908	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9461432	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461439	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9468287	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468300	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9468301	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs34130214	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs34130214	AL022393.7	cis	Muscle Skeletal	GTEx
rs34130214	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs34130214	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs34130214	RP5-874C20.3	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28092800-28103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:28092800-28103800	Weak transcription	Ovary	ovary
3	chr6:28092800-28104000	Weak transcription	Aorta	Aorta
4	chr6:28092800-28104000	Weak transcription	Small Intestine	intestine
5	chr6:28092800-28104200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:28093000-28103200	Weak transcription	NHLF	lung
7	chr6:28093000-28103800	Weak transcription	Psoas Muscle	Psoas
8	chr6:28093000-28104000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:28093000-28104200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:28093200-28102400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:28093200-28103200	Weak transcription	HMEC	breast
12	chr6:28093200-28103600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:28093400-28102600	Weak transcription	NHDF-Ad	bronchial
14	chr6:28093400-28103200	Weak transcription	NHEK	skin
15	chr6:28093400-28103400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:28093600-28102600	Weak transcription	Right Ventricle	heart
17	chr6:28093600-28103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:28093600-28103200	Weak transcription	Right Atrium	heart
19	chr6:28093600-28104000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:28093600-28104200	Weak transcription	Pancreas	Pancrea
21	chr6:28093600-28104400	Weak transcription	Esophagus	oesophagus
22	chr6:28093600-28104400	Weak transcription	Gastric	stomach
23	chr6:28093800-28102600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:28093800-28103200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:28093800-28104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:28093800-28104200	Weak transcription	Lung	lung
27	chr6:28094400-28104000	Weak transcription	Colonic Mucosa	Colon
28	chr6:28094600-28103200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:28095200-28103200	Weak transcription	Osteobl	bone
30	chr6:28095600-28103200	Weak transcription	Fetal Kidney	kidney
31	chr6:28095600-28103400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:28095800-28103200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:28096600-28102600	Genic enhancers	K562	blood
34	chr6:28096600-28103400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:28097200-28103200	Weak transcription	Fetal Lung	lung
36	chr6:28097400-28102600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:28097400-28103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:28097400-28103400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:28097600-28102400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:28097600-28103400	Weak transcription	HSMMtube	muscle
41	chr6:28097800-28103400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:28098000-28102400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:28098000-28102600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:28098000-28103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:28098000-28103200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:28098000-28103200	Weak transcription	NH-A	brain
47	chr6:28098000-28103400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:28098000-28103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:28098200-28102600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:28098200-28103200	Weak transcription	Rectal Mucosa Donor 31	rectum

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