Variant report

Variant	rs7304335
Chromosome Location	chr12:51193013-51193014
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51182843..51185421-chr12:51191723..51194223,2	MCF-7	breast:
2	chr12:51157164..51159112-chr12:51192400..51194148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10783386	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10783387	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876084	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876087	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876092	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876098	0.88[EUR][1000 genomes]
rs11169562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169563	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169567	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169570	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169571	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169572	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169578	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1129406	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11503907	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12372718	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2280503	0.81[ASN][1000 genomes]
rs34645899	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34863430	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35353300	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4307773	0.82[EUR][1000 genomes]
rs4986838	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926299	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61926301	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61926303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133974	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297504	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7306677	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7974517	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9943712	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7304335	ATF1	cis	Adipose Subcutaneous	GTEx
rs7304335	ATF1	cis	Artery Tibial	GTEx
rs7304335	ATF1	cis	Esophagus Muscularis	GTEx
rs7304335	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51180800-51204400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51186800-51193200	Weak transcription	Stomach Mucosa	stomach
3	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:51189000-51194000	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:51189000-51195600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:51189200-51195400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:51189400-51193800	Strong transcription	Adipose Nuclei	Adipose
8	chr12:51189400-51193800	Strong transcription	Brain Hippocampus Middle	brain
9	chr12:51189600-51193200	Strong transcription	Left Ventricle	heart
10	chr12:51189600-51193400	Strong transcription	Brain Anterior Caudate	brain
11	chr12:51189600-51193400	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:51189600-51193400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr12:51189600-51193800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:51189600-51194400	Strong transcription	Brain Angular Gyrus	brain
15	chr12:51189600-51195800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr12:51189600-51196400	Strong transcription	HSMM	muscle
17	chr12:51189600-51199800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:51189800-51193800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr12:51189800-51194800	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:51189800-51195000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:51189800-51195600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:51190000-51193800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:51190000-51195000	Strong transcription	Osteobl	bone
24	chr12:51190200-51204000	Weak transcription	Gastric	stomach
25	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
26	chr12:51190400-51193200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:51190400-51193400	Strong transcription	Psoas Muscle	Psoas
28	chr12:51190600-51194400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:51190600-51194400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:51190600-51194400	Strong transcription	HSMMtube	muscle
31	chr12:51190600-51195200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:51190600-51196400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:51190600-51197400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:51190800-51194600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr12:51190800-51195000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr12:51191000-51193200	Strong transcription	Lung	lung
37	chr12:51191200-51193200	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr12:51191200-51194600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr12:51191400-51193200	ZNF genes & repeats	Fetal Stomach	stomach
40	chr12:51191400-51196600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr12:51191600-51193200	ZNF genes & repeats	Fetal Thymus	thymus
42	chr12:51191800-51193200	Strong transcription	Aorta	Aorta
43	chr12:51191800-51193200	ZNF genes & repeats	Thymus	Thymus
44	chr12:51191800-51194600	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr12:51191800-51194800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:51191800-51195600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr12:51192000-51194800	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr12:51192200-51194400	Strong transcription	Colon Smooth Muscle	Colon
49	chr12:51192400-51193400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr12:51192400-51193600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

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