Variant report

Variant	rs2622322
Chromosome Location	chr6:28117443-28117444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28116033..28118585-chr6:28214732..28216735,2	MCF-7	breast:
2	chr16:47756437..47759003-chr6:28115750..28118620,2	MCF-7	breast:
3	chr6:28117245..28119705-chr6:28366174..28367710,2	K562	blood:

Variant related genes	Relation type
ENSG00000261231	Chromatin interaction
ENSG00000158691	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1150668	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1150670	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150679	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1150686	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150690	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1150694	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1150705	0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1150707	0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1150709	0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1150711	0.90[JPT][hapmap]
rs1150716	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1150718	1.00[YRI][hapmap]
rs1150721	1.00[YRI][hapmap]
rs1150724	1.00[YRI][hapmap]
rs1150726	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12214383	0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1225618	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225710	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1225715	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233660	0.86[AFR][1000 genomes]
rs1233713	0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12530158	0.82[JPT][hapmap]
rs13408	0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs149956	0.96[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149963	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs149971	0.91[CHB][hapmap]
rs149976	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes]
rs1531681	0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs156737	0.85[AFR][1000 genomes]
rs1654774	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1736891	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1736895	0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1778484	0.90[JPT][hapmap]
rs1997660	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2021826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203869	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs203878	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs213240	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2142730	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2394049	0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2622320	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2791333	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713158	0.82[AMR][1000 genomes]
rs707907	1.00[YRI][hapmap]
rs7206	0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs853683	1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs853684	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs853690	1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs853693	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs9301	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9468333	1.00[YRI][hapmap];0.82[AMR][1000 genomes]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2622322	AL022393.7	cis	Artery Aorta	GTEx
rs2622322	AL022393.7	cis	Nerve Tibial	GTEx
rs2622322	AL022393.7	cis	Esophagus Muscularis	GTEx
rs2622322	ZSCAN31	cis	lung	GTEx
rs2622322	ZSCAN23	cis	Muscle Skeletal	GTEx
rs2622322	ZSCAN23	cis	Artery Tibial	GTEx
rs2622322	RP5-874C20.3	cis	Nerve Tibial	GTEx
rs2622322	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs2622322	RP5-874C20.3	cis	Thyroid	GTEx
rs2622322	ZSCAN31	cis	Thyroid	GTEx
rs2622322	AL022393.7	cis	Artery Tibial	GTEx
rs2622322	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs2622322	ZSCAN23	cis	lung	GTEx
rs2622322	ZSCAN31	cis	Esophagus Muscularis	GTEx
rs2622322	AL022393.7	cis	Heart Left Ventricle	GTEx
rs2622322	AL022393.7	cis	Muscle Skeletal	GTEx
rs2622322	AL022393.7	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28110200-28120800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:28111000-28120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:28111200-28119400	Weak transcription	Stomach Mucosa	stomach
4	chr6:28111200-28119600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:28111400-28119400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:28111400-28129200	Weak transcription	Right Atrium	heart
7	chr6:28111600-28121000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:28111800-28118000	Strong transcription	A549	lung
9	chr6:28111800-28119400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:28111800-28119600	Strong transcription	HSMM	muscle
11	chr6:28111800-28121200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:28111800-28127000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:28112000-28119600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:28112000-28119600	Strong transcription	Liver	Liver
15	chr6:28112000-28120400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:28112000-28120600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:28112000-28120800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:28112000-28120800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:28112000-28121000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:28112000-28121200	Strong transcription	Fetal Thymus	thymus
21	chr6:28112000-28123600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:28112000-28124800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:28112000-28126600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:28112400-28119400	Strong transcription	K562	blood
25	chr6:28112400-28124800	Strong transcription	HepG2	liver
26	chr6:28113000-28119600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:28113200-28127200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:28113400-28124000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:28113800-28124600	Strong transcription	Dnd41	blood
30	chr6:28113800-28125600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:28114000-28120000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:28115200-28118400	Strong transcription	Primary B cells from cord blood	blood
33	chr6:28115200-28119200	Strong transcription	Osteobl	bone
34	chr6:28115200-28120400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:28115200-28123600	Strong transcription	NHEK	skin
36	chr6:28115200-28125800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:28115200-28127200	Strong transcription	Fetal Brain Female	brain
38	chr6:28115400-28118800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:28115400-28119600	Strong transcription	Primary T cells from cord blood	blood
40	chr6:28115400-28120400	Strong transcription	NHLF	lung
41	chr6:28115400-28120800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:28115400-28121000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:28115400-28121000	Strong transcription	Fetal Kidney	kidney
44	chr6:28115400-28123000	Strong transcription	Rectal Smooth Muscle	rectum
45	chr6:28115400-28123800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:28115400-28124400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:28115400-28124600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:28115400-28124600	Strong transcription	NHDF-Ad	bronchial
49	chr6:28115400-28124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:28115400-28125000	Strong transcription	Muscle Satellite Cultured Cells	--

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