Variant report

Variant	rs728122
Chromosome Location	chr6:28399124-28399125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28392901..28395106-chr6:28398520..28400756,3	K562	blood:
2	chr6:28397761..28399629-chr6:28401778..28405817,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1005125	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052215	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10946954	0.90[EUR][1000 genomes]
rs1124132	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1150705	0.81[EUR][1000 genomes]
rs1150707	0.81[EUR][1000 genomes]
rs1150709	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1150716	0.84[EUR][1000 genomes]
rs1233713	0.81[EUR][1000 genomes]
rs1361387	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2023493	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2108927	0.80[EUR][1000 genomes]
rs213232	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs213236	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs213237	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs213238	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs213240	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2142730	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2247002	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2531803	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2531806	0.81[AMR][1000 genomes]
rs2531825	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2531831	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2531832	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2859348	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs2859365	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455662	0.92[EUR][1000 genomes]
rs7206	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs853684	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs916403	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9301	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs9368565	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9468372	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs728122	AL022393.7	cis	Artery Tibial	GTEx
rs728122	ZSCAN23	cis	lung	GTEx
rs728122	AL022393.7	cis	Heart Left Ventricle	GTEx
rs728122	AL022393.7	cis	lung	GTEx
rs728122	RP5-874C20.3	cis	Thyroid	GTEx
rs728122	ZSCAN31	cis	Esophagus Muscularis	GTEx
rs728122	AL022393.7	cis	Nerve Tibial	GTEx
rs728122	ZSCAN31	cis	lung	GTEx
rs728122	AL022393.7	cis	Esophagus Muscularis	GTEx
rs728122	RP5-874C20.3	cis	Nerve Tibial	GTEx
rs728122	ZSCAN23	cis	Artery Tibial	GTEx
rs728122	ZSCAN31	cis	Muscle Skeletal	GTEx
rs728122	ZSCAN23	cis	Adipose Subcutaneous	GTEx
rs728122	ZSCAN31	cis	Thyroid	GTEx
rs728122	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs728122	TRIM27	cis	Skin Sun Exposed Lower leg	GTEx
rs728122	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs728122	AL022393.7	cis	Artery Aorta	GTEx
rs728122	ZSCAN23	cis	Stomach	GTEx
rs728122	ZNF323	cis	Frontal Cortex	GTEx
rs728122	ZSCAN23	cis	Muscle Skeletal	GTEx
rs728122	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28371200-28410400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28384600-28410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:28385400-28402000	Weak transcription	Fetal Kidney	kidney
4	chr6:28385400-28402200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:28385600-28410800	Weak transcription	Lung	lung
6	chr6:28386000-28402200	Weak transcription	Osteobl	bone
7	chr6:28386000-28410400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:28386800-28402200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:28387800-28410200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:28388000-28410400	Weak transcription	NHDF-Ad	bronchial
11	chr6:28388400-28399200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:28389200-28410200	Weak transcription	NHLF	lung
13	chr6:28389400-28403200	Weak transcription	Adipose Nuclei	Adipose
14	chr6:28389400-28410000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:28389600-28409800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:28389600-28410200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:28389600-28410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:28389600-28410400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:28389800-28410800	Weak transcription	Colonic Mucosa	Colon
20	chr6:28390200-28410400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:28391400-28402400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:28391400-28410400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:28391400-28410800	Weak transcription	Placenta	Placenta
24	chr6:28391600-28401800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:28391600-28402000	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:28391600-28402000	Weak transcription	Left Ventricle	heart
27	chr6:28391600-28402000	Weak transcription	Psoas Muscle	Psoas
28	chr6:28391600-28402200	Weak transcription	HSMMtube	muscle
29	chr6:28391600-28402200	Weak transcription	NH-A	brain
30	chr6:28391600-28410200	Weak transcription	Brain Anterior Caudate	brain
31	chr6:28391600-28410800	Weak transcription	Pancreas	Pancrea
32	chr6:28392000-28410200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:28392000-28410400	Weak transcription	NHEK	skin
34	chr6:28392200-28402000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:28392200-28410400	Weak transcription	Right Ventricle	heart
36	chr6:28392400-28410000	Weak transcription	HMEC	breast
37	chr6:28392400-28410400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:28393600-28410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:28393800-28402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:28393800-28404200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:28393800-28410600	Weak transcription	Aorta	Aorta
42	chr6:28394000-28401800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:28394200-28409800	Weak transcription	Fetal Heart	heart
44	chr6:28394400-28405000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:28394800-28402000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:28395200-28401000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:28395200-28402200	Weak transcription	Primary T cells from cord blood	blood
48	chr6:28395200-28403800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:28395200-28410200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:28395400-28409400	Weak transcription	Fetal Brain Male	brain

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