Variant report

Variant	rs1150670
Chromosome Location	chr6:28130559-28130560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr6:28130147-28130711	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr6:28130500-28130650	WERI-Rb-1	eye:	n/a	chr6:28130639-28130647
3	POLR2A	chr6:28130490-28130887	GM12878	blood:	n/a	n/a
4	CTCF	chr6:28130540-28130690	WERI-Rb-1	eye:	n/a	chr6:28130639-28130647

No.	Distal block	Cell Line	Cell type
1	chr6:28129539..28132293-chr6:28218155..28220468,2	K562	blood:
2	chr6:28126892..28131515-chr6:28301205..28304944,6	K562	blood:
3	chr6:27775710..27777880-chr6:28129434..28132036,2	K562	blood:
4	chr6:28129397..28131360-chr6:28191862..28193480,2	K562	blood:
5	chr6:27857955..27860857-chr6:28129284..28131805,2	K562	blood:

Variant related genes	Relation type
ZNF192P1	TF binding region
ENSG00000203813	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1150668	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1150679	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1150686	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150690	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1150694	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1150705	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1150707	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1150709	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1150716	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1225618	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225710	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1225715	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233713	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13408	0.86[AFR][1000 genomes]
rs149956	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149963	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1654774	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1736891	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1997660	0.83[AMR][1000 genomes]
rs2021826	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203869	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs203878	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs213240	0.81[AMR][1000 genomes]
rs2142730	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2622322	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791333	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34024998	0.80[EUR][1000 genomes]
rs4713158	0.83[AMR][1000 genomes]
rs707907	0.80[AMR][1000 genomes]
rs7206	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs853683	0.81[AMR][1000 genomes]
rs853684	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs853690	0.81[AMR][1000 genomes]
rs853693	0.83[AMR][1000 genomes]
rs9301	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9468333	0.83[AMR][1000 genomes]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs1150670	AL022393.7	cis	Artery Aorta	GTEx
rs1150670	AL022393.7	cis	lung	GTEx
rs1150670	ZSCAN31	cis	lung	GTEx
rs1150670	RP5-874C20.3	cis	Nerve Tibial	GTEx
rs1150670	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs1150670	AL022393.7	cis	Heart Left Ventricle	GTEx
rs1150670	AL022393.7	cis	Esophagus Muscularis	GTEx
rs1150670	AL022393.7	cis	Artery Tibial	GTEx
rs1150670	AL022393.7	cis	Muscle Skeletal	GTEx
rs1150670	ZSCAN31	cis	Thyroid	GTEx
rs1150670	ZSCAN23	cis	lung	GTEx
rs1150670	ZSCAN31	cis	Esophagus Muscularis	GTEx
rs1150670	RP5-874C20.3	cis	Thyroid	GTEx
rs1150670	AL022393.7	cis	Nerve Tibial	GTEx
rs1150670	ZSCAN23	cis	Muscle Skeletal	GTEx
rs1150670	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs1150670	ZSCAN23	cis	Artery Tibial	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28127000-28134200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:28129000-28130600	Active TSS	GM12878-XiMat	blood
3	chr6:28129800-28134000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:28129800-28138800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:28129800-28142200	Weak transcription	Aorta	Aorta
6	chr6:28129800-28145400	Weak transcription	Brain Angular Gyrus	brain
7	chr6:28130000-28130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:28130000-28130600	Enhancers	Brain Germinal Matrix	brain
9	chr6:28130000-28130600	Flanking Active TSS	Dnd41	blood
10	chr6:28130000-28130600	Enhancers	Hela-S3	cervix
11	chr6:28130000-28130800	Flanking Active TSS	K562	blood
12	chr6:28130000-28136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:28130000-28136200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:28130000-28136800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:28130000-28139000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:28130000-28141400	Weak transcription	Right Ventricle	heart
17	chr6:28130000-28142600	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:28130200-28130600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:28130200-28130600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:28130200-28130600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:28130200-28132800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:28130200-28132800	Weak transcription	Right Atrium	heart
23	chr6:28130200-28134400	Weak transcription	Liver	Liver
24	chr6:28130200-28134400	Weak transcription	Osteobl	bone
25	chr6:28130200-28134600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:28130200-28134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:28130200-28134600	Weak transcription	HSMMtube	muscle
28	chr6:28130200-28135400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr6:28130200-28136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:28130200-28137400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:28130200-28137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:28130200-28138600	Weak transcription	Primary B cells from cord blood	blood
33	chr6:28130200-28138600	Weak transcription	Brain Anterior Caudate	brain
34	chr6:28130200-28139200	Weak transcription	Fetal Brain Female	brain
35	chr6:28130200-28140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:28130200-28141800	Weak transcription	Fetal Kidney	kidney
37	chr6:28130200-28142800	Weak transcription	Left Ventricle	heart
38	chr6:28130400-28130600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:28130400-28130600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:28130400-28130600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:28130400-28130600	Enhancers	Stomach Smooth Muscle	stomach
42	chr6:28130400-28131000	Enhancers	HepG2	liver
43	chr6:28130400-28132600	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:28130400-28133200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:28130400-28133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:28130400-28133800	Weak transcription	Ovary	ovary
47	chr6:28130400-28134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:28130400-28139200	Weak transcription	Adipose Nuclei	Adipose
49	chr6:28130400-28140200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:28130400-28140800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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