Variant report

Variant	rs12428751
Chromosome Location	chr13:30134808-30134809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30132857..30135227-chr13:30168652..30170927,2	MCF-7	breast:
2	chr13:30128662..30130229-chr13:30134308..30136024,2	K562	blood:
3	chr13:30122738..30124853-chr13:30133655..30135999,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1018680	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1124594	0.81[ASN][1000 genomes]
rs12427581	0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12428341	1.00[EUR][1000 genomes]
rs12429742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17073661	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660515	0.81[ASN][1000 genomes]
rs2277452	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs2482087	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs2482089	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs2482090	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2482091	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2482092	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2482093	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2490264	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs2490265	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2490266	0.81[ASN][1000 genomes]
rs2490267	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs2776952	0.81[ASN][1000 genomes]
rs2776953	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2776955	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2776956	0.81[ASN][1000 genomes]
rs2776958	0.81[ASN][1000 genomes]
rs2776960	0.82[JPT][hapmap];0.91[AMR][1000 genomes]
rs2776978	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2776979	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2776980	0.82[JPT][hapmap]
rs2776981	0.82[JPT][hapmap]
rs2776983	0.82[JPT][hapmap]
rs2776984	0.82[JPT][hapmap]
rs2776985	0.82[JPT][hapmap]
rs2776986	0.82[JPT][hapmap]
rs2802240	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs2802243	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2802244	0.86[ASW][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2802250	0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2989592	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2989593	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2989596	0.81[ASN][1000 genomes]
rs3011623	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs3011625	0.81[ASN][1000 genomes]
rs3013640	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs3013641	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs35803474	1.00[EUR][1000 genomes]
rs598281	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs73454230	0.88[ASN][1000 genomes]
rs73454235	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
5	chr13:30113200-30141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:30113800-30136200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:30123000-30138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:30123600-30136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:30125000-30137200	Weak transcription	Brain Anterior Caudate	brain
10	chr13:30125000-30147400	Weak transcription	A549	lung
11	chr13:30125800-30136600	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:30125800-30142200	Weak transcription	K562	blood
13	chr13:30125800-30143200	Weak transcription	Gastric	stomach
14	chr13:30126000-30135800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:30126000-30137000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:30126000-30138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
18	chr13:30126200-30137200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
20	chr13:30126600-30136000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:30126600-30136000	Weak transcription	HUVEC	blood vessel
22	chr13:30126800-30135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:30127400-30142200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr13:30127600-30135400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:30127600-30135800	Weak transcription	HSMM	muscle
26	chr13:30127600-30137200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:30127600-30137800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:30127600-30144000	Weak transcription	Fetal Intestine Small	intestine
29	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
30	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
31	chr13:30127600-30156400	Weak transcription	Lung	lung
32	chr13:30127800-30135800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:30127800-30135800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:30127800-30136200	Weak transcription	Ovary	ovary
35	chr13:30127800-30136800	Weak transcription	Brain Angular Gyrus	brain
36	chr13:30127800-30137200	Weak transcription	Pancreas	Pancrea
37	chr13:30127800-30137800	Weak transcription	Brain Substantia Nigra	brain
38	chr13:30127800-30137800	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:30127800-30143200	Weak transcription	Fetal Thymus	thymus
40	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
41	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr13:30128000-30136000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:30128000-30136000	Weak transcription	HMEC	breast
44	chr13:30128000-30136000	Weak transcription	Osteobl	bone
45	chr13:30128000-30136200	Weak transcription	HepG2	liver
46	chr13:30128000-30136600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:30128000-30139400	Weak transcription	Left Ventricle	heart
48	chr13:30128000-30143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr13:30128000-30146800	Weak transcription	HSMMtube	muscle
50	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links