Variant report

Variant	rs1150718
Chromosome Location	chr6:28256947-28256948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28255421..28258446-chr6:28262353..28265432,3	K562	blood:
2	chr6:28246849..28251135-chr6:28253254..28258623,13	K562	blood:
3	chr6:28255210..28257728-chr6:28316331..28318308,2	K562	blood:
4	chr6:28184805..28186411-chr6:28255755..28258597,2	K562	blood:
5	chr6:28255681..28258623-chr6:28265550..28268633,3	K562	blood:

Variant related genes	Relation type
ENSG00000189298	Chromatin interaction
ENSG00000137338	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1005125	1.00[YRI][hapmap]
rs1052215	0.95[CHB][hapmap];1.00[YRI][hapmap]
rs1150694	1.00[YRI][hapmap]
rs1150705	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs1150707	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1150709	0.96[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1150711	0.83[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1150716	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1150721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1150724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1150726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12214383	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1225710	1.00[YRI][hapmap]
rs1233660	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233713	0.96[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs13408	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1531681	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1736891	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1736895	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1736904	0.80[CHB][hapmap]
rs1778484	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1997660	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2021826	1.00[YRI][hapmap]
rs213236	0.80[CHB][hapmap]
rs213238	0.80[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs213240	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2142730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2394049	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2622320	1.00[YRI][hapmap]
rs2622322	1.00[YRI][hapmap]
rs2859348	0.91[CHB][hapmap]
rs4713158	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707907	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7206	0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs853683	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853684	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs853690	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs853693	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9301	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9468333	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1150718	ZSCAN31	cis	Thyroid	GTEx
rs1150718	AL022393.7	cis	Nerve Tibial	GTEx
rs1150718	AL022393.7	cis	Muscle Skeletal	GTEx
rs1150718	ZSCAN31	cis	lung	GTEx
rs1150718	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs1150718	AL022393.7	cis	Heart Left Ventricle	GTEx
rs1150718	RP5-874C20.3	cis	Thyroid	GTEx
rs1150718	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs1150718	ZSCAN23	cis	Artery Tibial	GTEx
rs1150718	RP5-874C20.3	cis	Nerve Tibial	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28249800-28272200	Weak transcription	Spleen	Spleen
2	chr6:28250000-28258000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:28250000-28258600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:28250000-28277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:28250000-28293800	Weak transcription	Gastric	stomach
6	chr6:28250200-28273800	Weak transcription	Thymus	Thymus
7	chr6:28250400-28265600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:28250400-28278600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:28250600-28267000	Weak transcription	NHEK	skin
10	chr6:28250600-28270800	Weak transcription	Fetal Heart	heart
11	chr6:28250600-28280600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:28250800-28257600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:28250800-28270000	Weak transcription	Psoas Muscle	Psoas
14	chr6:28250800-28276800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:28251000-28258200	Strong transcription	Fetal Muscle Leg	muscle
16	chr6:28251000-28258600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:28251000-28258600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:28251000-28270800	Weak transcription	Colonic Mucosa	Colon
19	chr6:28251000-28273800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:28251000-28277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:28251000-28278800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:28251200-28257200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:28251200-28257600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:28251200-28258400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:28251200-28258400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:28251200-28259000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:28251200-28259400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:28251400-28257400	Strong transcription	Adipose Nuclei	Adipose
29	chr6:28251400-28258000	Strong transcription	Fetal Brain Female	brain
30	chr6:28251400-28262200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:28251600-28257600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:28251600-28258200	Strong transcription	Colon Smooth Muscle	Colon
33	chr6:28251600-28258200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:28251600-28258400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:28251600-28258400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:28251600-28258400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr6:28251600-28258400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:28251800-28257600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:28251800-28257600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:28251800-28257600	Strong transcription	Brain Angular Gyrus	brain
41	chr6:28251800-28257600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:28251800-28257800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:28251800-28258000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:28251800-28258600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:28252000-28258000	Strong transcription	NH-A	brain
46	chr6:28252000-28258600	Strong transcription	Brain Germinal Matrix	brain
47	chr6:28252200-28258000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:28252400-28258000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr6:28252400-28258200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:28252400-28259000	Strong transcription	HSMM	muscle

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