Variant report

Variant	rs7126343
Chromosome Location	chr11:46660623-46660624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46657186..46659254-chr11:46659404..46662397,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10160701	0.84[EUR][1000 genomes]
rs10838602	0.87[EUR][1000 genomes]
rs11038897	0.87[EUR][1000 genomes]
rs11038900	0.86[EUR][1000 genomes]
rs11038906	0.85[EUR][1000 genomes]
rs11038914	0.84[EUR][1000 genomes]
rs11038919	0.88[EUR][1000 genomes]
rs11038927	0.90[EUR][1000 genomes]
rs11038974	0.83[EUR][1000 genomes]
rs11819869	0.84[EUR][1000 genomes]
rs12272795	0.83[EUR][1000 genomes]
rs12283172	0.87[EUR][1000 genomes]
rs12292425	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12295266	0.94[EUR][1000 genomes]
rs12573978	0.87[EUR][1000 genomes]
rs12574250	0.84[EUR][1000 genomes]
rs12574259	0.87[EUR][1000 genomes]
rs12574668	0.85[EUR][1000 genomes]
rs12574918	0.85[EUR][1000 genomes]
rs12575519	0.85[EUR][1000 genomes]
rs12576115	0.83[EUR][1000 genomes]
rs12576317	0.87[EUR][1000 genomes]
rs12576359	0.87[EUR][1000 genomes]
rs12578042	0.86[EUR][1000 genomes]
rs1472001	0.85[EUR][1000 genomes]
rs1489192	0.86[EUR][1000 genomes]
rs16938506	0.87[EUR][1000 genomes]
rs2046768	0.87[EUR][1000 genomes]
rs2067482	0.87[EUR][1000 genomes]
rs2171667	0.87[EUR][1000 genomes]
rs2171668	0.87[EUR][1000 genomes]
rs2279465	0.87[EUR][1000 genomes]
rs2291487	0.87[EUR][1000 genomes]
rs2864072	0.87[EUR][1000 genomes]
rs2864076	0.87[EUR][1000 genomes]
rs2902858	0.86[EUR][1000 genomes]
rs34406563	0.84[EUR][1000 genomes]
rs35623865	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740974	0.87[EUR][1000 genomes]
rs3740977	0.86[EUR][1000 genomes]
rs3802888	0.86[EUR][1000 genomes]
rs4307676	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4319473	0.86[EUR][1000 genomes]
rs4423142	0.92[EUR][1000 genomes]
rs55657382	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55661562	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55896955	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56349329	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57535407	0.87[EUR][1000 genomes]
rs57739486	0.85[EUR][1000 genomes]
rs57744667	0.89[EUR][1000 genomes]
rs58147945	0.86[EUR][1000 genomes]
rs60722866	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60932698	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61882691	0.87[EUR][1000 genomes]
rs61882701	0.87[EUR][1000 genomes]
rs61882702	0.87[EUR][1000 genomes]
rs61882706	0.86[EUR][1000 genomes]
rs61882709	0.87[EUR][1000 genomes]
rs61882710	0.87[EUR][1000 genomes]
rs61882711	0.87[EUR][1000 genomes]
rs61882712	0.85[EUR][1000 genomes]
rs61882720	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61882743	0.83[EUR][1000 genomes]
rs61882746	0.86[EUR][1000 genomes]
rs61882748	0.87[EUR][1000 genomes]
rs61882750	0.88[EUR][1000 genomes]
rs61882756	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61882757	0.94[EUR][1000 genomes]
rs61882758	0.94[EUR][1000 genomes]
rs61884262	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61884264	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61884271	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61884273	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61884274	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61884292	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61884295	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61884301	0.84[EUR][1000 genomes]
rs6485682	0.87[EUR][1000 genomes]
rs6485685	0.96[EUR][1000 genomes]
rs7108770	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7109698	0.92[EUR][1000 genomes]
rs7112229	0.85[EUR][1000 genomes]
rs7122039	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7125907	0.94[EUR][1000 genomes]
rs7126316	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7127529	0.88[EUR][1000 genomes]
rs7128092	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7130141	0.86[EUR][1000 genomes]
rs73449983	0.94[EUR][1000 genomes]
rs7481312	0.93[EUR][1000 genomes]
rs7484002	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924401	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7926389	0.87[EUR][1000 genomes]
rs7930103	0.85[EUR][1000 genomes]
rs7936413	0.87[EUR][1000 genomes]
rs7946705	0.87[EUR][1000 genomes]
rs7951579	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46640000-46664200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46640000-46670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:46640600-46667200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:46640600-46667200	Weak transcription	Psoas Muscle	Psoas
5	chr11:46640800-46664400	Weak transcription	GM12878-XiMat	blood
6	chr11:46640800-46670600	Weak transcription	Fetal Heart	heart
7	chr11:46640800-46670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:46640800-46673000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:46641400-46667400	Weak transcription	Esophagus	oesophagus
10	chr11:46641600-46662600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:46641600-46663800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46641800-46660800	Weak transcription	Stomach Mucosa	stomach
13	chr11:46641800-46663200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:46641800-46680800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:46644600-46667400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:46644800-46666800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:46647200-46667400	Weak transcription	Pancreas	Pancrea
20	chr11:46647200-46670800	Weak transcription	Aorta	Aorta
21	chr11:46647400-46666600	Weak transcription	A549	lung
22	chr11:46647400-46670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:46647600-46667400	Weak transcription	Right Ventricle	heart
24	chr11:46647600-46670200	Weak transcription	NHLF	lung
25	chr11:46650400-46662200	Strong transcription	Fetal Thymus	thymus
26	chr11:46650800-46669600	Weak transcription	Right Atrium	heart
27	chr11:46651000-46663400	Weak transcription	Spleen	Spleen
28	chr11:46652000-46667400	Weak transcription	Gastric	stomach
29	chr11:46652200-46666000	Weak transcription	Osteobl	bone
30	chr11:46652200-46678400	Weak transcription	Fetal Brain Male	brain
31	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:46652400-46660800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:46652400-46664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:46652400-46667000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:46652400-46667200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:46652400-46667200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:46652400-46670800	Weak transcription	Fetal Kidney	kidney
38	chr11:46652600-46661000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:46652600-46666800	Weak transcription	K562	blood
40	chr11:46652600-46667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:46652600-46667400	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:46653000-46666600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:46653200-46668600	Weak transcription	Colonic Mucosa	Colon
44	chr11:46653400-46666400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:46653400-46666600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:46653400-46666600	Weak transcription	NHDF-Ad	bronchial
47	chr11:46653400-46667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:46653600-46661600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:46653800-46670800	Weak transcription	Small Intestine	intestine
50	chr11:46654000-46661600	Weak transcription	NH-A	brain

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