Variant report

Variant	rs1125291
Chromosome Location	chr11:46006737-46006738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45945921..45947947-chr11:46005632..46007133,2	K562	blood:
2	chr11:45938159..45940217-chr11:46005267..46008166,2	MCF-7	breast:
3	chr11:45998746..46001549-chr11:46002921..46008009,7	K562	blood:
4	chr11:45997750..46001916-chr11:46003160..46008009,7	K562	blood:

Variant related genes	Relation type
ENSG00000165905	Chromatin interaction
ENSG00000121680	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10742774	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10769176	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10769179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838535	0.83[ASN][1000 genomes]
rs10838541	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11038720	0.85[ASN][1000 genomes]
rs11038723	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11038739	0.81[EUR][1000 genomes]
rs11038745	0.97[ASN][1000 genomes]
rs1125290	0.99[ASN][1000 genomes]
rs12277800	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996573	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2945997	0.89[ASN][1000 genomes]
rs2946001	0.93[ASN][1000 genomes]
rs2946003	0.93[ASN][1000 genomes]
rs2946004	0.93[ASN][1000 genomes]
rs2959087	0.91[ASN][1000 genomes]
rs2959090	0.93[ASN][1000 genomes]
rs2959091	0.93[ASN][1000 genomes]
rs2959098	0.99[ASN][1000 genomes]
rs2959099	0.95[ASN][1000 genomes]
rs2959102	0.86[ASN][1000 genomes]
rs4144718	0.97[ASN][1000 genomes]
rs4237659	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237660	0.97[ASN][1000 genomes]
rs4756044	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4756045	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6485654	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108028	0.84[ASN][1000 genomes]
rs7108186	0.84[ASN][1000 genomes]
rs7128184	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130281	0.95[ASN][1000 genomes]
rs7926314	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935308	0.94[ASN][1000 genomes]
rs7948502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950336	0.97[ASN][1000 genomes]
rs7950391	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939107	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][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	nsv523952	chr11:45983385-46028281	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv972947	chr11:46004497-46007589	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45993000-46015000	Weak transcription	Psoas Muscle	Psoas
2	chr11:45993000-46017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:46000400-46013000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:46000600-46010400	Weak transcription	Hela-S3	cervix
5	chr11:46000800-46010200	Weak transcription	Liver	Liver
6	chr11:46000800-46012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:46001000-46015400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:46001400-46013200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:46001400-46013600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:46001400-46015200	Weak transcription	Pancreas	Pancrea
11	chr11:46001400-46016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:46001600-46006800	Weak transcription	Thymus	Thymus
14	chr11:46001600-46007200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:46001600-46015200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:46001600-46015400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:46001600-46016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:46001600-46021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:46002000-46015000	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:46002600-46012000	Weak transcription	GM12878-XiMat	blood
26	chr11:46002600-46023200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:46003600-46006800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:46004000-46007000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:46004000-46007600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:46004600-46007800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:46004600-46012400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:46004800-46006800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:46004800-46007800	Weak transcription	Gastric	stomach
34	chr11:46004800-46009200	Weak transcription	Fetal Kidney	kidney
35	chr11:46004800-46011200	Weak transcription	HUVEC	blood vessel
36	chr11:46004800-46015000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:46005000-46006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:46005000-46007000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:46005000-46012000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:46005000-46012000	Weak transcription	Ovary	ovary
41	chr11:46005000-46014400	Weak transcription	Fetal Stomach	stomach
42	chr11:46005200-46007000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:46005200-46008800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:46005200-46012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:46005200-46014800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:46005200-46014800	Weak transcription	NHLF	lung
47	chr11:46005200-46015000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:46005400-46006800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr11:46005400-46007000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:46005400-46008800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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