Variant report

Variant	rs1671767
Chromosome Location	chr12:120944719-120944720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120932676..120936619-chr12:120942737..120946468,3	K562	blood:
2	chr12:120933177..120935963-chr12:120940341..120945552,6	K562	blood:

Variant related genes	Relation type
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10849755	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1167695	0.81[EUR][1000 genomes]
rs1167700	0.84[ASN][1000 genomes]
rs1167703	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1167725	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167726	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167727	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12307148	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1614223	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1622884	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17431717	0.85[EUR][1000 genomes]
rs1794748	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1794749	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235222	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4347449	0.85[ASN][1000 genomes]
rs550876	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs563920	0.81[ASN][1000 genomes]
rs567156	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580016	0.86[EUR][1000 genomes]
rs588132	0.81[ASN][1000 genomes]
rs591992	0.81[ASN][1000 genomes]
rs614226	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs616157	0.86[EUR][1000 genomes]
rs640350	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7137953	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7174	0.81[ASN][1000 genomes]
rs73405622	0.81[ASN][1000 genomes]
rs787824	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs787827	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs787832	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956998	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963543	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7972244	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1671767	POP5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120935400-120945800	Weak transcription	Pancreas	Pancrea
4	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:120935800-120947000	Weak transcription	Aorta	Aorta
6	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
7	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:120936000-120944800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120936000-120947000	Weak transcription	Colonic Mucosa	Colon
10	chr12:120936000-120947200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
14	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:120936600-120949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
18	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
19	chr12:120937000-120951800	Weak transcription	NH-A	brain
20	chr12:120937200-120945800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
22	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:120938000-120944800	Strong transcription	Liver	Liver
24	chr12:120938000-120953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:120938400-120944800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr12:120938800-120944800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:120939000-120946800	Weak transcription	NHDF-Ad	bronchial
28	chr12:120939400-120946000	Weak transcription	Small Intestine	intestine
29	chr12:120939800-120951800	Weak transcription	Fetal Brain Male	brain
30	chr12:120940400-120948800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:120940600-120957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:120941000-120950600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:120941200-120944800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:120941600-120946200	Weak transcription	Fetal Brain Female	brain
35	chr12:120941800-120945800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:120941800-120946000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:120941800-120946000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:120941800-120946200	Weak transcription	HMEC	breast
39	chr12:120941800-120964000	Weak transcription	HUVEC	blood vessel
40	chr12:120942000-120945800	Weak transcription	Brain Substantia Nigra	brain
41	chr12:120942000-120946200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:120942000-120946200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:120942000-120946200	Weak transcription	HepG2	liver
44	chr12:120942000-120946400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:120942000-120946600	Weak transcription	Spleen	Spleen
46	chr12:120942000-120951800	Weak transcription	NHLF	lung
47	chr12:120942000-120962600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:120942200-120945800	Weak transcription	Brain Germinal Matrix	brain
49	chr12:120942200-120946200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:120942400-120945800	Weak transcription	Osteobl	bone

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