Variant report

Variant	rs6706992
Chromosome Location	chr2:114684363-114684364
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	POLR2A	chr2:114683284-114684400	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:114684056-114684441	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:114683370-114684567	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:114684025-114684587	K562	blood:	n/a	n/a
5	POLR2A	chr2:114683938-114684466	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:114683957-114684412	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114512708..114514375-chr2:114682269..114685341,3	MCF-7	breast:

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10173512	0.81[ASN][1000 genomes]
rs10173891	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174686	0.87[ASN][1000 genomes]
rs10179207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10194262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10195450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199857	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199930	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204979	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10208093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11895582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11895596	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12615093	0.87[ASN][1000 genomes]
rs12617393	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12621090	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13387748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388533	0.87[ASN][1000 genomes]
rs13393280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13394237	0.87[ASN][1000 genomes]
rs13396357	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13426411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13428539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13432142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1467292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1504043	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1522915	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17040419	1.00[EUR][1000 genomes]
rs1962501	0.87[ASN][1000 genomes]
rs2047883	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2140262	0.87[ASN][1000 genomes]
rs2177263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3828257	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4278936	0.85[AMR][1000 genomes]
rs4362566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4848357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs59450025	1.00[EUR][1000 genomes]
rs6542179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717183	0.87[YRI][hapmap];0.93[AFR][1000 genomes]
rs6724586	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6732402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741741	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6741785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6742452	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758858	0.84[AFR][1000 genomes]
rs6759040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72948681	0.87[ASN][1000 genomes]
rs72948686	0.87[ASN][1000 genomes]
rs7561061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575874	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7578772	0.81[AFR][1000 genomes]
rs7580099	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580260	1.00[ASW][hapmap];0.84[LWK][hapmap];0.81[AFR][1000 genomes]
rs7581859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7592252	0.84[AFR][1000 genomes]
rs924804	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924805	1.00[MEX][hapmap];0.88[YRI][hapmap]
rs9973379	0.87[ASN][1000 genomes]
rs9973578	0.87[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6706992	C1orf127	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
2	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
5	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
9	chr2:114668000-114690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:114668200-114692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:114668200-114695800	Weak transcription	Psoas Muscle	Psoas
12	chr2:114668200-114704800	Weak transcription	Gastric	stomach
13	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
14	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
15	chr2:114668600-114692800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:114668800-114703200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:114669000-114686400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:114669200-114686400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:114669400-114693400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:114670800-114693000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
22	chr2:114670800-114719000	Strong transcription	Dnd41	blood
23	chr2:114671000-114684600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:114671000-114695000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:114671000-114704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:114671200-114692800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:114671200-114694000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:114673000-114703000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:114675000-114691600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:114675800-114684600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:114675800-114685600	Weak transcription	Brain Anterior Caudate	brain
35	chr2:114675800-114686000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:114676000-114685800	Weak transcription	Fetal Brain Female	brain
37	chr2:114676000-114706200	Weak transcription	Hela-S3	cervix
38	chr2:114676200-114685800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:114676200-114686000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:114676200-114686400	Weak transcription	Aorta	Aorta
41	chr2:114676200-114686800	Weak transcription	Ovary	ovary
42	chr2:114676200-114696200	Weak transcription	Pancreas	Pancrea
43	chr2:114676200-114704800	Weak transcription	Spleen	Spleen
44	chr2:114676400-114686000	Weak transcription	Left Ventricle	heart
45	chr2:114676400-114686000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:114676600-114684800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:114676600-114685200	Weak transcription	NHLF	lung
48	chr2:114676600-114691800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:114676600-114695000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:114676600-114695800	Weak transcription	Brain Inferior Temporal Lobe	brain

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