Variant report

Variant	rs11846861
Chromosome Location	chr14:77889546-77889547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
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	POLR2A	chr14:77889482-77889670	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:77889546-77889596	AG10803	skin:	n/a
2	chr14:77889546-77889596	LNCaP	prostate:	n/a
3	chr14:77889546-77889596	BE2_C	brain:	n/a
4	chr14:77889546-77889596	HCM	heart:	n/a
5	chr14:77889546-77889596	AoSMC	blood vessel:	n/a
6	chr14:77889546-77889596	BJ	skin:	n/a
7	chr14:77889546-77889596	SAEC	small airway:	n/a
8	chr14:77889546-77889596	AG09309	skin:	n/a
9	chr14:77889546-77889596	ECC-1	luminal epithelium:	n/a
10	chr14:77889546-77889596	K562	blood:	n/a
11	chr14:77889546-77889596	SKMC	muscle:	n/a
12	chr14:77889546-77889596	HCPEpiC	choroid plexus:	n/a
13	chr14:77889546-77889596	SK-N-SH	brain:	n/a
14	chr14:77889546-77889596	NHDF-neo	bronchial:	n/a
15	chr14:77889546-77889596	AG04449	skin:	fetal
16	chr14:77889546-77889596	GM12878	blood:	n/a
17	chr14:77889546-77889596	NT2-D1	testis:	n/a
18	chr14:77889546-77889596	NB4	blood:	n/a
19	chr14:77889546-77889596	HMEC	breast:	n/a
20	chr14:77889546-77889596	PrEC	prostate:	n/a
21	chr14:77889546-77889596	HL-60	blood:	n/a
22	chr14:77889546-77889596	HEEpiC	esophagus:	n/a
23	chr14:77889546-77889596	H1-hESC	embryonic stem cell:	embryo
24	chr14:77889546-77889596	GM12891	blood:	n/a
25	chr14:77889546-77889596	Hela-S3	cervix:	n/a
26	chr14:77889546-77889596	HRE	kidney:	n/a
27	chr14:77889546-77889596	U87	brain:	n/a
28	chr14:77889546-77889596	A549	lung:	n/a
29	chr14:77889546-77889596	AG09319	gingival:	n/a
30	chr14:77889546-77889596	ProgFib	skin:	n/a
31	chr14:77889546-77889596	RPTEC	kidney:	n/a
32	chr14:77889546-77889596	CMK	blood:	n/a
33	chr14:77889546-77889596	T-47D	breast:	n/a
34	chr14:77889546-77889596	Caco-2	colon:	n/a
35	chr14:77889546-77889596	GM06990	blood:	n/a
36	chr14:77889546-77889596	HRPEpiC	eye:	n/a
37	chr14:77889546-77889596	Hepatocyte	liver:	n/a
38	chr14:77889546-77889596	GM19239	blood:	n/a
39	chr14:77889546-77889596	Jurkat	blood:	n/a
40	chr14:77889546-77889596	MCF-7	breast:	n/a
41	chr14:77889546-77889596	HNPCEpiC	eye:	n/a
42	chr14:77889546-77889596	HRCEpiC	kidney:	n/a
43	chr14:77889546-77889596	GM12892	blood:	n/a
44	chr14:77889546-77889596	SK-N-MC	brain:	n/a
45	chr14:77889546-77889596	AG04450	lung:	fetal
46	chr14:77889546-77889596	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:77889546-77889596	HCT-116	colon:	n/a
48	chr14:77889546-77889596	SK-N-SH_RA	brain:	n/a
49	chr14:77889546-77889596	ovcar-3	ovarian:	n/a
50	chr14:77889546-77889596	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:

No data

Variant related genes	Relation type
NOXRED1	TF binding region
NOXRED1	CpG island
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10130481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10133824	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs10146635	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151003	0.80[EUR][1000 genomes]
rs10483882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11159260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11845345	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881960	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12885247	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891177	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892329	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176771	0.81[EUR][1000 genomes]
rs17750993	0.84[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.80[EUR][1000 genomes]
rs17824094	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967638	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28599756	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602758	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33915834	0.90[EUR][1000 genomes]
rs34835605	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311406	0.84[EUR][1000 genomes]
rs3825694	0.88[GIH][hapmap]
rs67479808	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71413461	0.80[EUR][1000 genomes]
rs71413462	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7145606	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146543	0.81[EUR][1000 genomes]
rs760252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8003282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11846861	TMED8	cis	Skin Sun Exposed Lower leg	GTEx
rs11846861	ISM2	cis	parietal	SCAN
rs11846861	AHSA1	cis	parietal	SCAN
rs11846861	C14orf148	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77883800-77893200	Weak transcription	K562	blood
3	chr14:77884800-77891000	Weak transcription	HMEC	breast
4	chr14:77886200-77890400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:77886200-77891000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:77886400-77890000	Weak transcription	Thymus	Thymus
7	chr14:77886400-77890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:77886400-77890400	Weak transcription	Gastric	stomach
9	chr14:77886400-77891000	Weak transcription	HUVEC	blood vessel
10	chr14:77886400-77891200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:77886600-77889600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:77886600-77890400	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:77886600-77890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:77886600-77892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:77886600-77895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:77886600-77896200	Strong transcription	A549	lung
17	chr14:77886800-77890200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:77886800-77890400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:77886800-77890800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:77886800-77891000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:77886800-77893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:77887000-77889600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:77887000-77892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:77887000-77896000	Strong transcription	Brain Germinal Matrix	brain
25	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:77887200-77889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:77887200-77890200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:77887200-77891000	Weak transcription	Fetal Brain Male	brain
30	chr14:77887200-77892800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:77887200-77896600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
34	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
35	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
36	chr14:77887400-77889800	Strong transcription	Fetal Lung	lung
37	chr14:77887400-77891200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:77887400-77896200	Strong transcription	Left Ventricle	heart
39	chr14:77887400-77896400	Strong transcription	Ovary	ovary
40	chr14:77887400-77904200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:77887400-77904400	Strong transcription	Adipose Nuclei	Adipose
42	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:77887400-77920400	Strong transcription	Liver	Liver
44	chr14:77887600-77890400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:77887600-77891000	Weak transcription	Esophagus	oesophagus
46	chr14:77887600-77896200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr14:77887600-77904200	Strong transcription	Brain Hippocampus Middle	brain
48	chr14:77887600-77904400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:77887600-77904400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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