Variant report

Variant	rs73295918
Chromosome Location	chr12:32834851-32834852
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	chr12:32832189..32833738-chr12:32833878..32835983,2	MCF-7	breast:
2	chr12:32831164..32834168-chr12:32834322..32838647,4	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60066916	1.00[AMR][1000 genomes]
rs73298048	1.00[AMR][1000 genomes]
rs73298091	1.00[AMR][1000 genomes]
rs73311054	1.00[AMR][1000 genomes]
rs73311075	1.00[AMR][1000 genomes]
rs73311096	1.00[AMR][1000 genomes]
rs73313069	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32833000-32835000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:32833200-32835000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:32833200-32840800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:32833200-32841200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:32833200-32841800	Weak transcription	Lung	lung
6	chr12:32833200-32841800	Weak transcription	Pancreas	Pancrea
7	chr12:32833200-32841800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:32833200-32842200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:32833200-32846600	Weak transcription	Psoas Muscle	Psoas
10	chr12:32833200-32848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:32833200-32848400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:32833200-32864000	Weak transcription	Esophagus	oesophagus
13	chr12:32833200-32864600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:32833400-32854200	Weak transcription	Placenta	Placenta
15	chr12:32833400-32859000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:32833400-32864000	Weak transcription	Thymus	Thymus
17	chr12:32833600-32835400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:32833600-32836200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:32833600-32836600	Weak transcription	Colonic Mucosa	Colon
20	chr12:32833600-32837800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:32833600-32838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:32833600-32839800	Weak transcription	Aorta	Aorta
23	chr12:32833600-32840800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:32833600-32841400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:32833600-32847200	Weak transcription	HSMM	muscle
26	chr12:32833600-32854400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:32833600-32861400	Weak transcription	Right Atrium	heart
28	chr12:32833600-32861800	Weak transcription	Fetal Thymus	thymus
29	chr12:32833800-32835400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:32833800-32836200	Weak transcription	Fetal Stomach	stomach
31	chr12:32833800-32838400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:32833800-32859000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:32833800-32863000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:32834000-32835000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:32834000-32848600	Weak transcription	Fetal Kidney	kidney
36	chr12:32834200-32835000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:32834200-32835000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:32834200-32835000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:32834200-32835000	Enhancers	Gastric	stomach
40	chr12:32834200-32835000	Enhancers	Right Ventricle	heart
41	chr12:32834200-32835000	Enhancers	Dnd41	blood
42	chr12:32834200-32835400	Enhancers	NHEK	skin
43	chr12:32834200-32835800	Enhancers	HepG2	liver
44	chr12:32834200-32836800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:32834200-32836800	Weak transcription	Osteobl	bone
46	chr12:32834200-32837000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:32834200-32837800	Weak transcription	Fetal Lung	lung
48	chr12:32834200-32838000	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:32834200-32838200	Weak transcription	Primary B cells from cord blood	blood
50	chr12:32834200-32839400	Weak transcription	Rectal Mucosa Donor 29	rectum

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