Variant report

Variant	rs57861885
Chromosome Location	chr12:124427874-124427875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124427289..124429927-chr12:124454570..124456176,2	K562	blood:
2	chr12:124426014..124428363-chr12:124429735..124431659,2	K562	blood:
3	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:

Variant related genes	Relation type
ENSG00000270095	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11833681	1.00[EUR][1000 genomes]
rs11835416	1.00[EUR][1000 genomes]
rs11836598	1.00[EUR][1000 genomes]
rs56025259	1.00[EUR][1000 genomes]
rs56096831	1.00[EUR][1000 genomes]
rs57024764	1.00[EUR][1000 genomes]
rs58292766	1.00[EUR][1000 genomes]
rs59689888	1.00[EUR][1000 genomes]
rs60509888	1.00[EUR][1000 genomes]
rs60571579	1.00[EUR][1000 genomes]
rs60654678	1.00[EUR][1000 genomes]
rs60890562	1.00[EUR][1000 genomes]
rs61174884	1.00[EUR][1000 genomes]
rs61231375	1.00[EUR][1000 genomes]
rs61730202	1.00[EUR][1000 genomes]
rs61735933	1.00[EUR][1000 genomes]
rs7135932	1.00[EUR][1000 genomes]
rs7296360	1.00[EUR][1000 genomes]
rs73409432	1.00[EUR][1000 genomes]
rs73420349	1.00[EUR][1000 genomes]
rs73420352	1.00[EUR][1000 genomes]
rs7956827	1.00[EUR][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124408800-124428000	Weak transcription	Right Atrium	heart
2	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
3	chr12:124417800-124428400	Strong transcription	Brain Germinal Matrix	brain
4	chr12:124418000-124428400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:124418000-124431000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:124418200-124430800	Strong transcription	Stomach Smooth Muscle	stomach
7	chr12:124418200-124431400	Strong transcription	Fetal Stomach	stomach
8	chr12:124418600-124430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:124419000-124428400	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
11	chr12:124420600-124430800	Strong transcription	Pancreas	Pancrea
12	chr12:124420800-124432600	Weak transcription	HepG2	liver
13	chr12:124421000-124430600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
15	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:124423400-124429800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:124423600-124428200	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:124423600-124430600	Strong transcription	Liver	Liver
19	chr12:124423600-124430800	Weak transcription	Dnd41	blood
20	chr12:124423600-124431600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:124423800-124428000	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:124423800-124430600	Strong transcription	Ovary	ovary
24	chr12:124423800-124430600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:124424000-124431200	Strong transcription	Primary T cells from cord blood	blood
26	chr12:124424200-124429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:124424200-124429400	Strong transcription	Left Ventricle	heart
28	chr12:124424200-124430000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr12:124424200-124430400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:124424600-124428600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:124424600-124430200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:124424800-124430600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:124425200-124428400	Weak transcription	Aorta	Aorta
34	chr12:124425400-124428800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:124425600-124428000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr12:124425600-124428400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:124425800-124430400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:124425800-124430600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:124426000-124428200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr12:124426000-124428800	Strong transcription	Rectal Smooth Muscle	rectum
41	chr12:124426000-124430600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:124426200-124428200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:124426200-124428400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:124426200-124430800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:124426400-124428000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:124426400-124428600	Enhancers	HUVEC	blood vessel
47	chr12:124426400-124430200	Strong transcription	Colon Smooth Muscle	Colon
48	chr12:124426600-124428400	Weak transcription	Fetal Heart	heart
49	chr12:124426600-124428800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:124426600-124428800	Enhancers	HSMMtube	muscle

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