Variant report

Variant	rs3730308
Chromosome Location	chr12:49176872-49176873
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49176859-49176909	HEEpiC	esophagus:	n/a
2	chr12:49176859-49176909	HCPEpiC	choroid plexus:	n/a
3	chr12:49176859-49176909	SK-N-SH_RA	brain:	n/a
4	chr12:49176859-49176909	PANC-1	pancreas:	n/a
5	chr12:49176859-49176909	NH-A	brain:	n/a
6	chr12:49176859-49176909	K562	blood:	n/a
7	chr12:49176859-49176909	HCM	heart:	n/a
8	chr12:49176859-49176909	SK-N-SH	brain:	n/a
9	chr12:49176859-49176909	HIPEpiC	eye:	n/a
10	chr12:49176859-49176909	MCF-7	breast:	n/a
11	chr12:49176859-49176909	ovcar-3	ovarian:	n/a
12	chr12:49176859-49176909	AG09309	skin:	n/a
13	chr12:49176859-49176909	HCT-116	colon:	n/a
14	chr12:49176859-49176909	HRCEpiC	kidney:	n/a
15	chr12:49176859-49176909	Caco-2	colon:	n/a
16	chr12:49176859-49176909	H1-hESC	embryonic stem cell:	embryo
17	chr12:49176859-49176909	CMK	blood:	n/a
18	chr12:49176859-49176909	ProgFib	skin:	n/a
19	chr12:49176859-49176909	HRE	kidney:	n/a
20	chr12:49176859-49176909	NHDF-neo	bronchial:	n/a
21	chr12:49176859-49176909	AG10803	skin:	n/a
22	chr12:49176859-49176909	U87	brain:	n/a
23	chr12:49176859-49176909	Hela-S3	cervix:	n/a
24	chr12:49176859-49176909	GM19239	blood:	n/a
25	chr12:49176859-49176909	HL-60	blood:	n/a
26	chr12:49176859-49176909	SK-N-MC	brain:	n/a
27	chr12:49176859-49176909	HUVEC	blood vessel:	n/a
28	chr12:49176859-49176909	Hepatocyte	liver:	n/a
29	chr12:49176859-49176909	IMR90	lung:	fetal
30	chr12:49176859-49176909	NB4	blood:	n/a
31	chr12:49176859-49176909	GM12878	blood:	n/a
32	chr12:49176859-49176909	Jurkat	blood:	n/a
33	chr12:49176859-49176909	AG04449	skin:	fetal
34	chr12:49176859-49176909	MCF10A-Er-Src	breast:	n/a
35	chr12:49176859-49176909	BE2_C	brain:	n/a
36	chr12:49176859-49176909	BJ	skin:	n/a
37	chr12:49176859-49176909	NHBE	bronchial:	n/a
38	chr12:49176859-49176909	AG04450	lung:	fetal
39	chr12:49176859-49176909	AoSMC	blood vessel:	n/a
40	chr12:49176859-49176909	LNCaP	prostate:	n/a
41	chr12:49176859-49176909	HCF	heart:	n/a
42	chr12:49176859-49176909	SAEC	small airway:	n/a
43	chr12:49176859-49176909	HAEpiC	amniotic membrane:	n/a
44	chr12:49176859-49176909	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:49176859-49176909	NT2-D1	testis:	n/a
46	chr12:49176859-49176909	GM12891	blood:	n/a
47	chr12:49176859-49176909	GM06990	blood:	n/a
48	chr12:49176859-49176909	HRPEpiC	eye:	n/a
49	chr12:49176859-49176909	PFSK-1	brain:	n/a
50	chr12:49176859-49176909	HMEC	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
2	chr12:49074353..49076635-chr12:49175112..49177362,2	MCF-7	breast:
3	chr12:49168166..49170620-chr12:49174965..49176996,2	MCF-7	breast:
4	chr12:49174311..49177281-chr12:49188936..49191839,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY6	CpG island
ENSG00000174233	Chromatin interaction
ENSG00000257660	Chromatin interaction
ENSG00000139620	Chromatin interaction

rs_ID	r²[population]
rs11168749	1.00[ASN][1000 genomes]
rs11168751	1.00[ASN][1000 genomes]
rs12369114	1.00[ASN][1000 genomes]
rs12814893	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453467	1.00[ASN][1000 genomes]
rs34014405	1.00[ASN][1000 genomes]
rs36000595	1.00[ASN][1000 genomes]
rs55638074	1.00[ASN][1000 genomes]
rs55916159	1.00[ASN][1000 genomes]
rs73104702	1.00[ASN][1000 genomes]
rs7315024	1.00[ASN][1000 genomes]

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49158400-49177800	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:49159400-49181000	Weak transcription	Small Intestine	intestine
3	chr12:49160600-49177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49160600-49180600	Weak transcription	Fetal Brain Male	brain
5	chr12:49163000-49180400	Weak transcription	Psoas Muscle	Psoas
6	chr12:49163000-49180600	Weak transcription	Hela-S3	cervix
7	chr12:49168400-49181400	Weak transcription	Fetal Kidney	kidney
8	chr12:49169800-49180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:49169800-49180400	Weak transcription	HepG2	liver
10	chr12:49169800-49181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:49170000-49180800	Weak transcription	Brain Anterior Caudate	brain
12	chr12:49171200-49180800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:49171600-49180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:49172200-49181600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:49172400-49180800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:49172400-49181200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:49173000-49177600	Enhancers	Right Atrium	heart
18	chr12:49173200-49177400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:49174000-49177600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:49174200-49177000	Strong transcription	Brain Germinal Matrix	brain
21	chr12:49174400-49177200	Strong transcription	Fetal Brain Female	brain
22	chr12:49174400-49177600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:49174400-49180600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:49174600-49177200	Enhancers	Fetal Heart	heart
25	chr12:49174600-49180600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:49174600-49180800	Weak transcription	HSMM	muscle
27	chr12:49174600-49181000	Weak transcription	HSMMtube	muscle
28	chr12:49174800-49180600	Weak transcription	Osteobl	bone
29	chr12:49174800-49181200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:49174800-49181200	Weak transcription	HUVEC	blood vessel
31	chr12:49175000-49177000	Genic enhancers	Pancreas	Pancrea
32	chr12:49175200-49177400	Strong transcription	Liver	Liver
33	chr12:49175200-49180600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:49175400-49177000	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr12:49175400-49177000	Strong transcription	NHLF	lung
36	chr12:49175400-49177400	Genic enhancers	Right Ventricle	heart
37	chr12:49175400-49177600	Strong transcription	Rectal Smooth Muscle	rectum
38	chr12:49175400-49179000	Strong transcription	Fetal Stomach	stomach
39	chr12:49175400-49179800	Weak transcription	NHDF-Ad	bronchial
40	chr12:49175400-49180200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:49175400-49180600	Weak transcription	HMEC	breast
42	chr12:49175600-49177000	Genic enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:49175600-49177200	Strong transcription	Lung	lung
44	chr12:49175600-49177600	Genic enhancers	Adipose Nuclei	Adipose
45	chr12:49175800-49177200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr12:49175800-49177200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:49175800-49177200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:49175800-49177600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:49175800-49180800	Weak transcription	NH-A	brain
50	chr12:49175800-49181600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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