Variant report

Variant	rs11182985
Chromosome Location	chr12:45731683-45731684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45729696..45732550-chr12:46121531..46124261,2	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000189079	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11183020	1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs12298823	1.00[EUR][1000 genomes]
rs12299652	1.00[EUR][1000 genomes]
rs12303119	1.00[EUR][1000 genomes]
rs12313889	1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12318053	1.00[EUR][1000 genomes]
rs12318489	1.00[EUR][1000 genomes]
rs12319642	1.00[EUR][1000 genomes]
rs9804810	1.00[EUR][1000 genomes]
rs9804811	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:45696400-45736600	Weak transcription	HepG2	liver
6	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
7	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:45700000-45743600	Weak transcription	Gastric	stomach
10	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
15	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
17	chr12:45710200-45741800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:45710400-45736600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:45710400-45741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:45720600-45741800	Weak transcription	Pancreas	Pancrea
21	chr12:45720600-45743600	Weak transcription	Lung	lung
22	chr12:45720800-45741800	Weak transcription	Small Intestine	intestine
23	chr12:45722000-45736400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:45722000-45736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:45722200-45732000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:45722200-45735400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:45722200-45735800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:45722200-45736400	Weak transcription	HUVEC	blood vessel
29	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
30	chr12:45722400-45732000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:45723400-45740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:45723600-45732000	Weak transcription	Psoas Muscle	Psoas
33	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:45724000-45732000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
36	chr12:45726000-45732000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:45726000-45732000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:45726000-45732000	Weak transcription	Ovary	ovary
39	chr12:45726000-45740400	Weak transcription	GM12878-XiMat	blood
40	chr12:45726000-45741800	Weak transcription	Fetal Kidney	kidney
41	chr12:45726000-45743400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:45726600-45732000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:45726600-45737000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:45726600-45740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:45726600-45740400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:45726600-45741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:45726600-45741600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:45726600-45741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:45726800-45732000	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links