Variant report

Variant	rs2791332
Chromosome Location	chr6:28108788-28108789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:28108785-28110773	SK-N-SH	brain:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
2	chr6:28107272..28109222-chr6:28196565..28198817,2	K562	blood:
3	chr6:28103055..28111556-chr6:28296771..28308203,17	K562	blood:
4	chr6:28106928..28109553-chr6:28206567..28208256,2	MCF-7	breast:
5	chr6:28107051..28109226-chr6:28248173..28249802,2	K562	blood:
6	chr6:28108436..28110620-chr6:28192837..28194996,3	MCF-7	breast:
7	chr6:28091137..28098786-chr6:28103559..28111884,14	MCF-7	breast:
8	chr6:28044713..28049958-chr6:28107484..28111355,5	K562	blood:
9	chr6:28107051..28109569-chr6:28248173..28249802,3	K562	blood:
10	chr6:28108043..28113786-chr6:28190485..28194607,10	K562	blood:
11	chr6:28108695..28111169-chr6:28321228..28323056,2	K562	blood:
12	chr6:28107084..28109102-chr6:28365969..28368656,2	K562	blood:
13	chr6:28106596..28109035-chr6:28311794..28313364,2	K562	blood:
14	chr6:28108272..28111912-chr6:28184259..28187979,3	MCF-7	breast:
15	chr6:28092149..28093653-chr6:28108097..28109825,2	MCF-7	breast:
16	chr6:28099723..28110178-chr6:28301599..28306918,14	K562	blood:
17	chr6:28102723..28113786-chr6:28183725..28194756,41	K562	blood:

No data

Variant related genes	Relation type
ZSCAN16-AS1	TF binding region
ZKSCAN8	TF binding region
ENSG00000196812	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000197279	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1071893	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1150666	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150678	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12173797	0.86[EUR][1000 genomes]
rs1225592	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1225595	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1225716	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233691	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233708	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs149955	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs149958	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149959	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149962	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149965	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs156738	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156739	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1631552	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1770131	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs183244	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs188105	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs203876	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203877	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs203882	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203883	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203884	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203892	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203893	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2622319	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs476167	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs536704	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295760	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2791332	OR1F12	cis	Thyroid	GTEx
rs2791332	RP5-874C20.3	cis	Nerve Tibial	GTEx
rs2791332	AL022393.7	cis	Nerve Tibial	GTEx
rs2791332	AL022393.7	cis	Artery Tibial	GTEx
rs2791332	RP1-265C24.9	cis	Heart Left Ventricle	GTEx
rs2791332	ZSCAN31	cis	Thyroid	GTEx
rs2791332	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2791332	AL022393.7	cis	Muscle Skeletal	GTEx
rs2791332	AL022393.7	cis	Heart Left Ventricle	GTEx
rs2791332	RP1-265C24.5	cis	Muscle Skeletal	GTEx
rs2791332	OR2B8P	cis	Thyroid	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28105600-28109200	Weak transcription	Gastric	stomach
2	chr6:28105800-28108800	Weak transcription	Stomach Mucosa	stomach
3	chr6:28105800-28109000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:28105800-28109000	Weak transcription	Placenta	Placenta
5	chr6:28105800-28109000	Weak transcription	A549	lung
6	chr6:28105800-28109200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:28105800-28109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:28105800-28109200	Weak transcription	Esophagus	oesophagus
9	chr6:28105800-28109200	Weak transcription	Left Ventricle	heart
10	chr6:28105800-28109200	Weak transcription	Lung	lung
11	chr6:28105800-28109200	Weak transcription	Pancreas	Pancrea
12	chr6:28106000-28108800	Weak transcription	NHLF	lung
13	chr6:28106000-28109000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:28106000-28109000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:28106000-28109000	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:28106000-28109000	Weak transcription	HSMMtube	muscle
17	chr6:28106000-28109000	Weak transcription	NH-A	brain
18	chr6:28106000-28109200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:28106000-28109200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:28106000-28109200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:28106000-28109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:28106000-28109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:28106000-28109200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:28106000-28109200	Weak transcription	Brain Angular Gyrus	brain
25	chr6:28106000-28109200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:28106000-28109200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:28106000-28109200	Weak transcription	Colonic Mucosa	Colon
28	chr6:28106000-28109200	Weak transcription	Fetal Brain Male	brain
29	chr6:28106000-28109200	Weak transcription	Fetal Intestine Large	intestine
30	chr6:28106000-28109200	Weak transcription	Fetal Kidney	kidney
31	chr6:28106000-28109200	Weak transcription	Right Ventricle	heart
32	chr6:28106000-28109200	Weak transcription	Small Intestine	intestine
33	chr6:28106000-28109200	Weak transcription	Spleen	Spleen
34	chr6:28106000-28109200	Weak transcription	HMEC	breast
35	chr6:28106000-28109200	Weak transcription	HSMM	muscle
36	chr6:28106000-28109200	Weak transcription	NHEK	skin
37	chr6:28106200-28108800	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:28106200-28108800	Weak transcription	Fetal Heart	heart
39	chr6:28106200-28109000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:28106200-28109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:28106200-28109000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:28106200-28109000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:28106200-28109000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:28106200-28109000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:28106200-28109000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:28106200-28109000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:28106200-28109000	Weak transcription	Fetal Lung	lung
48	chr6:28106200-28109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:28106200-28109000	Weak transcription	HUVEC	blood vessel
50	chr6:28106200-28109200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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