Variant report

Variant	rs10747998
Chromosome Location	chr12:64535780-64535781
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64534344..64535876-chr12:64567198..64569416,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1067637	0.84[EUR][1000 genomes]
rs10747997	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878105	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878106	0.82[AFR][1000 genomes]
rs2279666	0.80[ASN][1000 genomes]
rs4763138	0.81[ASN][1000 genomes]
rs7131691	0.84[AMR][1000 genomes]
rs789722	0.81[EUR][1000 genomes]
rs789729	0.81[EUR][1000 genomes]
rs789741	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3336339	chr12:64533135-64536433	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
2	chr12:64511200-64539400	Weak transcription	HepG2	liver
3	chr12:64514800-64535800	Weak transcription	Hela-S3	cervix
4	chr12:64522200-64541200	Weak transcription	Colonic Mucosa	Colon
5	chr12:64522400-64541200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:64522800-64540800	Weak transcription	Fetal Kidney	kidney
7	chr12:64524200-64536200	Weak transcription	NHEK	skin
8	chr12:64524400-64541200	Weak transcription	Gastric	stomach
9	chr12:64525000-64536000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:64527800-64535800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:64527800-64536000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:64527800-64536000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:64527800-64536000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:64527800-64536200	Weak transcription	Liver	Liver
15	chr12:64527800-64536200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:64527800-64537000	Weak transcription	Right Ventricle	heart
17	chr12:64528000-64535800	Weak transcription	Aorta	Aorta
18	chr12:64528000-64536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:64528000-64536000	Weak transcription	Placenta	Placenta
20	chr12:64528000-64536400	Weak transcription	Fetal Brain Male	brain
21	chr12:64528000-64538400	Weak transcription	Fetal Heart	heart
22	chr12:64528000-64540800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:64528000-64541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:64528000-64541400	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:64528200-64536000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:64528200-64536000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:64528200-64536200	Weak transcription	Lung	lung
28	chr12:64528600-64540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:64528800-64536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:64529000-64536200	Weak transcription	Spleen	Spleen
31	chr12:64529200-64535800	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:64529400-64536600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:64529800-64536200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:64530000-64536200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:64530200-64535800	Weak transcription	Brain Germinal Matrix	brain
36	chr12:64531000-64535800	Weak transcription	Osteobl	bone
37	chr12:64531400-64535800	Weak transcription	NHLF	lung
38	chr12:64531600-64535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:64531600-64554400	Weak transcription	NH-A	brain
40	chr12:64533000-64536000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:64533200-64535800	Weak transcription	HSMM	muscle
42	chr12:64533200-64536000	Weak transcription	A549	lung
43	chr12:64533800-64541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:64534600-64538000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:64535400-64537600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:64535400-64537600	Strong transcription	Fetal Intestine Small	intestine
47	chr12:64535400-64537600	Strong transcription	Pancreas	Pancrea
48	chr12:64535400-64537800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:64535400-64538400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:64535400-64539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links