Variant report

Variant	rs57092158
Chromosome Location	chr2:233680940-233680941
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233679964..233682809-chr2:233685559..233687469,2	MCF-7	breast:
2	chr2:233422671..233424995-chr2:233680170..233682627,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11883745	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883794	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11884898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885029	0.81[AMR][1000 genomes]
rs11885497	0.95[EUR][1000 genomes]
rs11885646	0.97[EUR][1000 genomes]
rs11890879	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11892639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894688	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11897789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11900295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900327	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901015	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904714	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271702	0.83[EUR][1000 genomes]
rs2289913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289916	0.87[ASN][1000 genomes]
rs2293781	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2305138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880899	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34487721	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3738904	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816336	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817310	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144794	1.00[EUR][1000 genomes]
rs55686138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913849	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56140815	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56344253	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357073	0.81[EUR][1000 genomes]
rs56953250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57211905	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57513852	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57657135	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57667610	0.83[EUR][1000 genomes]
rs57986228	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58268778	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58466616	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58520085	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58835825	0.83[EUR][1000 genomes]
rs59488869	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59502980	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59514271	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59667905	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60103392	0.83[EUR][1000 genomes]
rs60532570	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518838	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6719766	0.83[EUR][1000 genomes]
rs73092767	0.98[EUR][1000 genomes]
rs73092790	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73102244	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73102257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73102286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73106355	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73106363	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73107693	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73108328	0.83[EUR][1000 genomes]
rs73108346	0.85[EUR][1000 genomes]
rs73999704	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73999707	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7560000	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564410	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7578385	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7598518	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601559	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7606011	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
3	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:233665400-233685800	Strong transcription	Fetal Lung	lung
5	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:233669200-233682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:233669400-233690400	Strong transcription	Dnd41	blood
12	chr2:233669400-233703600	Strong transcription	Liver	Liver
13	chr2:233669600-233682400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:233669600-233686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
16	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:233669800-233681000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:233669800-233686200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:233669800-233686400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:233670000-233686200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:233670200-233682400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:233670200-233683200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:233670200-233684000	Strong transcription	GM12878-XiMat	blood
27	chr2:233670200-233688800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:233670200-233702600	Strong transcription	HepG2	liver
31	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:233670800-233686000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:233670800-233690400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:233671000-233682200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:233671000-233684800	Strong transcription	NHEK	skin
37	chr2:233671000-233686600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:233671000-233687000	Strong transcription	Fetal Thymus	thymus
39	chr2:233671000-233692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
41	chr2:233671200-233681800	Strong transcription	Fetal Stomach	stomach
42	chr2:233671200-233681800	Strong transcription	Thymus	Thymus
43	chr2:233671200-233682000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:233671200-233682000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:233671200-233682800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:233671200-233682800	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:233671200-233683400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:233671200-233684600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:233671200-233686400	Strong transcription	Adipose Nuclei	Adipose
50	chr2:233671200-233690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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