Variant report

Variant	rs61830265
Chromosome Location	chr1:220963416-220963417
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	CEBPB	chr1:220963007-220963514	Hela-S3	cervix:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
2	HDAC2	chr1:220963135-220963476	HepG2	liver:	n/a	n/a
3	HNF4G	chr1:220963147-220963453	HepG2	liver:	n/a	n/a
4	FOXA1	chr1:220963188-220963493	HepG2	liver:	n/a	n/a
5	FOS	chr1:220963165-220963507	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr1:220963048-220963500	A549	lung:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
7	CEBPB	chr1:220963111-220963495	A549	lung:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
8	FOXA2	chr1:220963133-220963462	HepG2	liver:	n/a	n/a
9	EP300	chr1:220963050-220963463	HepG2	liver:	n/a	n/a
10	TEAD4	chr1:220963035-220963572	HepG2	liver:	n/a	n/a
11	FOS	chr1:220963176-220963478	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr1:220963226-220963430	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr1:220963127-220963466	IMR90	lung:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
14	MAX	chr1:220963187-220963461	NB4	blood:	n/a	n/a
15	FOS	chr1:220963179-220963478	MCF10A-Er-Src	breast:	n/a	n/a
16	ARID3A	chr1:220963097-220963428	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:220963119-220963469	MCF-7	breast:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
18	CEBPD	chr1:220963157-220963423	HepG2	liver:	n/a	n/a
19	SMC3	chr1:220963281-220963481	HepG2	liver:	n/a	n/a
20	SP1	chr1:220963061-220963511	HepG2	liver:	n/a	n/a
21	CEBPB	chr1:220963124-220963463	K562	blood:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
22	STAT3	chr1:220963113-220963483	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr1:220963275-220963552	MCF10A-Er-Src	breast:	n/a	n/a
24	HNF4A	chr1:220963181-220963430	HepG2	liver:	n/a	n/a
25	MYC	chr1:220963212-220963433	NB4	blood:	n/a	n/a
26	FOXA1	chr1:220963152-220963525	HepG2	liver:	n/a	n/a
27	MYC	chr1:220963149-220963434	MCF10A-Er-Src	breast:	n/a	n/a
28	CEBPB	chr1:220963110-220963511	HepG2	liver:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
29	EP300	chr1:220963171-220963510	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:220963141-220963489	HepG2	liver:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
31	CEBPB	chr1:220963139-220963494	HepG2	liver:	n/a	chr1:220963331-220963342 chr1:220963267-220963278
32	MYC	chr1:220963095-220963424	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:
3	chr1:220956374..220960540-chr1:220960774..220963878,4	K562	blood:
4	chr1:220956861..220959223-chr1:220961892..220963473,2	MCF-7	breast:
5	chr1:220963259..220966041-chr1:220969331..220970964,2	K562	blood:

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

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11588866	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008613	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4131748	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61830265	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220960600-220964800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:220960800-220964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:220960800-220964400	Weak transcription	Lung	lung
4	chr1:220960800-220965200	Weak transcription	Small Intestine	intestine
5	chr1:220961000-220964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:220961000-220964200	Weak transcription	Gastric	stomach
7	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:220961000-220964600	Weak transcription	Psoas Muscle	Psoas
10	chr1:220961000-220964600	Weak transcription	HMEC	breast
11	chr1:220961000-220964800	Weak transcription	Right Ventricle	heart
12	chr1:220961000-220964800	Weak transcription	HUVEC	blood vessel
13	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
14	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
15	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:220961000-220976800	Weak transcription	Ovary	ovary
17	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:220961200-220963600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:220961200-220964000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:220961200-220964200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:220961200-220964600	Weak transcription	Left Ventricle	heart
23	chr1:220961200-220964800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:220961200-220965000	Weak transcription	Brain Anterior Caudate	brain
25	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:220961400-220963800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
29	chr1:220961600-220965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:220961600-220965000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:220961600-220965800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:220961600-220966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
36	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
38	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
40	chr1:220961800-220963800	Weak transcription	Fetal Intestine Small	intestine
41	chr1:220961800-220963800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:220961800-220964200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:220961800-220964200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:220961800-220964400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:220961800-220964400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:220961800-220964600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:220961800-220964600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:220961800-220966000	Enhancers	Liver	Liver
49	chr1:220961800-220967000	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:220961800-220969600	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links