Variant report

Variant	rs3806327
Chromosome Location	chr1:220959860-220959861
allele	C/T
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	MAX	chr1:220959764-220960971	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:220959533-220961147	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:220959720-220961010	Hela-S3	cervix:	n/a	n/a
4	HEY1	chr1:220959459-220960459	HepG2	liver:	n/a	n/a
5	CTCF	chr1:220959740-220959890	BE2_C	brain:	n/a	n/a
6	HEY1	chr1:220959476-220961035	HepG2	liver:	n/a	n/a
7	MAX	chr1:220959476-220961100	Hela-S3	cervix:	n/a	n/a
8	TBP	chr1:220959828-220960199	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr1:220959847-220960829	ECC-1	luminal epithelium:	n/a	chr1:220960192-220960209
10	EP300	chr1:220959842-220960442	HepG2	liver:	n/a	chr1:220960128-220960137 chr1:220960115-220960128
11	FOXA1	chr1:220959846-220960236	HepG2	liver:	n/a	chr1:220959954-220959966
12	POLR2A	chr1:220958619-220961999	Hela-S3	cervix:	n/a	n/a
13	GTF2F1	chr1:220959835-220960230	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr1:220959760-220959910	AG10803	skin:	n/a	n/a
15	POLR2A	chr1:220959565-220961053	HepG2	liver:	n/a	n/a
16	CTCF	chr1:220959600-220959870	SK-N-SH_RA	brain:	n/a	n/a
17	REST	chr1:220959665-220960463	H1-neurons	neurons:	n/a	chr1:220960111-220960124
18	MYC	chr1:220959792-220961085	Hela-S3	cervix:	n/a	n/a
19	REST	chr1:220959804-220960441	HepG2	liver:	n/a	chr1:220960111-220960124
20	MAZ	chr1:220959815-220960866	HepG2	liver:	n/a	n/a
21	STAT3	chr1:220959840-220960094	Hela-S3	cervix:	n/a	chr1:220960025-220960037
22	CHD2	chr1:220959854-220960419	HepG2	liver:	n/a	chr1:220960121-220960131
23	RCOR1	chr1:220959536-220960792	HepG2	liver:	n/a	n/a
24	TFAP2C	chr1:220959558-220961112	Hela-S3	cervix:	n/a	n/a
25	TCF7L2	chr1:220959780-220962626	Hela-S3	cervix:	n/a	n/a
26	KAP1	chr1:220958335-220960481	HEK293	kidney:	n/a	n/a
27	NR2F2	chr1:220959754-220960471	MCF-7	breast:	n/a	n/a
28	MAX	chr1:220959794-220961136	ECC-1	luminal epithelium:	n/a	n/a
29	RCOR1	chr1:220959660-220961124	Hela-S3	cervix:	n/a	n/a
30	YY1	chr1:220959453-220960995	HepG2	liver:	n/a	chr1:220960128-220960137 chr1:220959814-220959828 chr1:220959704-220959715 chr1:220960582-220960593 chr1:220960125-220960134 chr1:220959735-220959749
31	HNF4A	chr1:220959840-220960424	HepG2	liver:	n/a	chr1:220960200-220960214 chr1:220960198-220960216 chr1:220960201-220960213 chr1:220960200-220960213 chr1:220960201-220960213 chr1:220960200-220960215 chr1:220960201-220960214 chr1:220960199-220960214 chr1:220960200-220960214
32	SMC3	chr1:220959730-220961069	Hela-S3	cervix:	n/a	n/a
33	KAP1	chr1:220959287-220960313	U2OS	brain:	n/a	n/a
34	RAD21	chr1:220959796-220960340	Hela-S3	cervix:	n/a	chr1:220960258-220960277
35	BACH1	chr1:220959433-220960912	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr1:220959844-220960318	Hela-S3	cervix:	n/a	n/a
37	HNF4A	chr1:220959605-220960902	HepG2	liver:	n/a	chr1:220960200-220960214 chr1:220960198-220960216 chr1:220960201-220960213 chr1:220960200-220960213 chr1:220959711-220959733 chr1:220960201-220960213 chr1:220960200-220960215 chr1:220960201-220960214 chr1:220960199-220960214 chr1:220960200-220960214
38	TCF12	chr1:220959665-220960272	ECC-1	luminal epithelium:	n/a	chr1:220959900-220959907 chr1:220960211-220960218 chr1:220960223-220960233
39	FOXA2	chr1:220959775-220960194	A549	lung:	n/a	chr1:220959954-220959966
40	POLR2A	chr1:220959786-220960467	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:220959843-220961233	Hela-S3	cervix:	n/a	n/a
42	ZEB1	chr1:220959446-220961221	HepG2	liver:	n/a	n/a
43	MBD4	chr1:220959806-220960171	HepG2	liver:	n/a	n/a
44	MYBL2	chr1:220959725-220960274	HepG2	liver:	n/a	n/a
45	NFIC	chr1:220959782-220960466	HepG2	liver:	n/a	chr1:220960192-220960209
46	EP300	chr1:220959732-220960535	HepG2	liver:	n/a	chr1:220959735-220959744 chr1:220960128-220960137 chr1:220959824-220959840 chr1:220959737-220959753 chr1:220960115-220960128
47	POLR2A	chr1:220959751-220960174	HepG2	liver:	n/a	n/a
48	CTBP2	chr1:220959280-220961075	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:220959476-220961466	HepG2	liver:	n/a	n/a
50	SIN3A	chr1:220959428-220960924	H1-hESC	embryonic stem cell:	n/a	chr1:220959616-220959625 chr1:220960042-220960053

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:
3	chr1:220959343..220960099-chr7:45026038..45026887,2	Hela-S3	cervix:
4	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:
5	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000232956	Chromatin interaction
ENSG00000117791	Chromatin interaction
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17008595	0.92[ASN][1000 genomes]
rs17008643	0.94[ASN][1000 genomes]
rs2279636	0.94[ASN][1000 genomes]
rs2279637	0.94[ASN][1000 genomes]
rs3738176	0.95[ASN][1000 genomes]
rs72472382	0.82[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3806327	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs3806327	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220939000-220960400	Weak transcription	Small Intestine	intestine
2	chr1:220959000-220960200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:220959000-220962000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:220959200-220960000	Flanking Active TSS	Fetal Brain Female	brain
5	chr1:220959200-220960000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr1:220959200-220960000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:220959200-220960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:220959200-220962600	Enhancers	Fetal Brain Male	brain
9	chr1:220959400-220960000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr1:220959400-220960000	Flanking Active TSS	Colonic Mucosa	Colon
11	chr1:220959400-220960000	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr1:220959400-220960000	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr1:220959400-220960000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:220959400-220960000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:220959400-220960000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr1:220959400-220960200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:220959400-220960200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr1:220959400-220960200	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr1:220959400-220960400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr1:220959400-220960600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:220959400-220960800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:220959400-220960800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:220959400-220961000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:220959400-220961000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr1:220959400-220961000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:220959400-220961000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:220959400-220961000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr1:220959400-220961000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:220959400-220961200	Active TSS	Brain Anterior Caudate	brain
30	chr1:220959400-220961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:220959400-220961800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:220959600-220960000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:220959600-220960000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:220959600-220960000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:220959600-220960000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:220959600-220960000	Flanking Active TSS	Liver	Liver
37	chr1:220959600-220960000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:220959600-220960000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr1:220959600-220960000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr1:220959600-220960000	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr1:220959600-220960000	Flanking Active TSS	Lung	lung
42	chr1:220959600-220960000	Flanking Active TSS	Hela-S3	cervix
43	chr1:220959600-220960000	Flanking Active TSS	NHLF	lung
44	chr1:220959600-220960200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:220959600-220960200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr1:220959600-220960200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr1:220959600-220960200	Bivalent/Poised TSS	Thymus	Thymus
48	chr1:220959600-220960600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:220959600-220960600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:220959600-220960800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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