Variant report

Variant	rs7971399
Chromosome Location	chr12:46613729-46613730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46611489..46616057-chr12:46626284..46631509,6	MCF-7	breast:
2	chr12:46611672..46615140-chr12:46658386..46664443,5	K562	blood:
3	chr12:46608964..46611081-chr12:46612036..46613850,2	K562	blood:
4	chr12:46611743..46615456-chr12:46661323..46664567,5	MCF-7	breast:
5	chr12:46593049..46595554-chr12:46612027..46614436,2	MCF-7	breast:
6	chr12:46611766..46613913-chr12:46659130..46661605,2	MCF-7	breast:
7	chr12:46611447..46614258-chr12:46760762..46763199,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4768106	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768107	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6582622	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs960117	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs962683	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs963326	0.88[AMR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
3	chr12:46597400-46614200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
5	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:46604400-46618600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:46605000-46615000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:46605000-46615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:46607000-46615000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:46608400-46615000	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:46608400-46618200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:46609000-46614400	Weak transcription	Fetal Stomach	stomach
15	chr12:46609200-46618600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:46610200-46613800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:46610200-46619000	Weak transcription	Psoas Muscle	Psoas
18	chr12:46610400-46624000	Weak transcription	Pancreas	Pancrea
19	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
20	chr12:46610800-46614400	Weak transcription	Brain Germinal Matrix	brain
21	chr12:46611000-46613800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:46611400-46615800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:46611600-46616800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:46612000-46615400	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:46612000-46617200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:46612200-46613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:46612200-46613800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:46612200-46615200	Enhancers	Fetal Intestine Small	intestine
29	chr12:46612200-46615200	Enhancers	Small Intestine	intestine
30	chr12:46612200-46616000	Enhancers	Placenta	Placenta
31	chr12:46612200-46618200	Genic enhancers	NHEK	skin
32	chr12:46612400-46613800	Enhancers	HMEC	breast
33	chr12:46612400-46614200	Enhancers	Dnd41	blood
34	chr12:46612400-46614400	Enhancers	Thymus	Thymus
35	chr12:46612400-46614600	Genic enhancers	H1 Cell Line	embryonic stem cell
36	chr12:46612400-46615400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:46612400-46618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:46612600-46618400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:46612800-46614400	Genic enhancers	Fetal Thymus	thymus
40	chr12:46613000-46616800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:46613200-46613800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:46613200-46613800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:46613200-46613800	Genic enhancers	Left Ventricle	heart
44	chr12:46613200-46613800	Enhancers	Lung	lung
45	chr12:46613200-46613800	Enhancers	NH-A	brain
46	chr12:46613200-46614000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr12:46613200-46614000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:46613200-46614000	Enhancers	NHDF-Ad	bronchial
49	chr12:46613200-46614200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:46613200-46614200	Enhancers	Fetal Intestine Large	intestine

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