Variant report

Variant	rs2092120
Chromosome Location	chr6:27430146-27430147
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27418806..27420371-chr6:27428147..27430166,2	K562	blood:
2	chr6:27386703..27389483-chr6:27429188..27431655,2	K562	blood:
3	chr6:27429105..27431185-chr6:27434916..27437111,2	K562	blood:
4	chr6:27414915..27419456-chr6:27425103..27430538,5	MCF-7	breast:
5	chr6:27427630..27430892-chr6:27435526..27437127,4	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1014227	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10452601	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10484397	0.82[ASN][1000 genomes]
rs10484398	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10807023	0.82[ASN][1000 genomes]
rs10807024	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10807025	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10946919	0.92[ASN][1000 genomes]
rs10946920	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10946921	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10946931	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10946932	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10946933	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11970336	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12197858	0.82[ASN][1000 genomes]
rs12199110	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12200018	0.82[ASN][1000 genomes]
rs12206045	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12212293	0.80[ASN][1000 genomes]
rs12213598	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12215117	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12524409	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12529839	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13201443	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13201965	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13201985	0.95[ASN][1000 genomes]
rs13212050	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13215560	0.88[ASN][1000 genomes]
rs13217162	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13217248	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13220155	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1569566	0.82[ASN][1000 genomes]
rs1883216	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2049944	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049945	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2092121	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2092122	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2103557	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142705	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179154	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2205831	0.83[ASN][1000 genomes]
rs2206254	0.82[ASN][1000 genomes]
rs2235252	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2235254	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2272814	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272815	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272816	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2294308	0.88[ASN][1000 genomes]
rs2294309	0.87[ASN][1000 genomes]
rs2893917	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35394453	0.94[ASN][1000 genomes]
rs4478400	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4711153	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713104	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713105	0.95[ASN][1000 genomes]
rs4713106	0.91[ASN][1000 genomes]
rs4713107	0.91[ASN][1000 genomes]
rs4713109	0.88[ASN][1000 genomes]
rs55705181	0.81[ASN][1000 genomes]
rs57647048	0.82[ASN][1000 genomes]
rs62401365	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6456786	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6456788	0.89[ASN][1000 genomes]
rs6456789	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6456791	0.82[ASN][1000 genomes]
rs6650992	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6899780	0.82[ASN][1000 genomes]
rs6899950	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6903282	0.86[ASN][1000 genomes]
rs6904844	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6908086	0.82[ASN][1000 genomes]
rs6911865	0.88[ASN][1000 genomes]
rs6914542	0.82[ASN][1000 genomes]
rs6914585	0.82[ASN][1000 genomes]
rs6918131	0.87[ASN][1000 genomes]
rs6918794	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6920010	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920408	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920733	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6921071	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6931659	0.84[ASN][1000 genomes]
rs6933354	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6938689	0.82[AMR][1000 genomes]
rs726830	0.90[ASN][1000 genomes]
rs7509	0.94[ASN][1000 genomes]
rs760880	0.82[ASN][1000 genomes]
rs764460	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs764461	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7741031	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7743443	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7743465	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7744110	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7745380	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7747283	0.80[ASN][1000 genomes]
rs7748366	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7750795	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7754678	0.92[ASN][1000 genomes]
rs7754724	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7756216	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7756377	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7764070	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7764634	0.91[ASN][1000 genomes]
rs7771590	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7772160	0.92[ASN][1000 genomes]
rs7774613	0.86[ASN][1000 genomes]
rs7776338	0.87[ASN][1000 genomes]
rs9468140	0.88[ASN][1000 genomes]
rs9468141	0.88[ASN][1000 genomes]
rs979352	0.82[ASN][1000 genomes]
rs979353	0.82[ASN][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
3	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27412600-27438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:27414200-27430600	ZNF genes & repeats	Liver	Liver
3	chr6:27414400-27432000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr6:27415400-27438600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:27415600-27430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr6:27415800-27430200	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr6:27415800-27434000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr6:27416000-27432400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:27416200-27432600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:27416800-27430600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr6:27417200-27432600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:27418000-27430200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr6:27422800-27430400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:27423000-27430200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:27424000-27439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:27425000-27438800	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:27425200-27433800	Weak transcription	Psoas Muscle	Psoas
18	chr6:27425200-27435000	Weak transcription	Right Ventricle	heart
19	chr6:27425400-27435200	Weak transcription	Brain Substantia Nigra	brain
20	chr6:27425400-27438400	Weak transcription	Fetal Brain Male	brain
21	chr6:27425600-27439400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:27426400-27430600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr6:27426400-27430800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:27426400-27438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr6:27426600-27438200	Strong transcription	Fetal Thymus	thymus
26	chr6:27426800-27430200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:27426800-27430200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr6:27427200-27430200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:27427200-27430600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:27427600-27430200	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr6:27427600-27430400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:27427600-27430600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:27427600-27430600	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr6:27427600-27430800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr6:27427800-27440000	Weak transcription	Esophagus	oesophagus
36	chr6:27428200-27430200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr6:27428200-27433600	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr6:27428400-27430600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:27428400-27430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:27428400-27430800	ZNF genes & repeats	Fetal Lung	lung
41	chr6:27428400-27434800	Weak transcription	HUVEC	blood vessel
42	chr6:27428400-27438800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:27428600-27430200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:27428800-27430600	Strong transcription	Fetal Stomach	stomach
45	chr6:27428800-27434800	Weak transcription	Gastric	stomach
46	chr6:27428800-27437800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:27428800-27439800	Weak transcription	Pancreas	Pancrea
48	chr6:27429000-27431600	Weak transcription	Left Ventricle	heart
49	chr6:27429000-27433400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:27429000-27433600	Weak transcription	Brain Hippocampus Middle	brain

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