Variant report

Variant	rs6672013
Chromosome Location	chr1:220970384-220970385
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	POLR2A	chr1:220969855-220971404	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:
2	chr1:220965572..220968372-chr1:220969216..220971838,2	MCF-7	breast:
3	chr1:220963259..220966041-chr1:220969331..220970964,2	K562	blood:
4	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11118604	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803233	0.87[YRI][hapmap]
rs11808207	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs12026135	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12029901	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12030249	1.00[MEX][hapmap]
rs12030434	1.00[MEX][hapmap]
rs1874122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1874123	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2270534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2270535	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669217	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671579	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687366	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72472308	1.00[EUR][1000 genomes]
rs72472341	1.00[EUR][1000 genomes]
rs953970	1.00[MEX][hapmap]
rs9970394	1.00[MEX][hapmap]

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
2	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:220961000-220976800	Weak transcription	Ovary	ovary
4	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
9	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
10	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
14	chr1:220961800-220971600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:220961800-220972000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
18	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:220964000-220974000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:220964800-220970600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:220964800-220972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:220964800-220978400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:220965000-220972600	Weak transcription	Colonic Mucosa	Colon
27	chr1:220965000-220972600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:220965000-220980000	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:220965200-220971000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:220965200-220971600	Weak transcription	Right Ventricle	heart
31	chr1:220965200-220979600	Weak transcription	Gastric	stomach
32	chr1:220965200-220985400	Weak transcription	Aorta	Aorta
33	chr1:220965400-220970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:220965400-220970800	Weak transcription	Fetal Brain Male	brain
35	chr1:220965400-220971200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:220965400-220971600	Weak transcription	Left Ventricle	heart
37	chr1:220965400-220972400	Weak transcription	Brain Anterior Caudate	brain
38	chr1:220965400-220982200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:220965600-220971000	Weak transcription	Placenta	Placenta
40	chr1:220965600-220983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:220965800-220971800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:220965800-220983800	Weak transcription	Fetal Lung	lung
43	chr1:220966400-220971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:220966400-220996000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:220966600-220982400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:220966800-220985200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:220967600-220976400	Strong transcription	Adipose Nuclei	Adipose
48	chr1:220967600-220983800	Weak transcription	Psoas Muscle	Psoas
49	chr1:220968200-220977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:220968600-220970400	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links