Variant report

Variant	rs57667610
Chromosome Location	chr2:233738971-233738972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:233737723-233739671	HepG2	liver:	n/a	n/a
2	NFIC	chr2:233738647-233739246	HepG2	liver:	n/a	n/a
3	TEAD4	chr2:233738499-233739301	HepG2	liver:	n/a	n/a
4	EP300	chr2:233738749-233739450	HepG2	liver:	n/a	n/a
5	HEY1	chr2:233738290-233739730	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:233735959-233739644	HepG2	liver:	n/a	n/a
7	ELF1	chr2:233738820-233739227	A549	lung:	n/a	chr2:233739055-233739068
8	POLR2A	chr2:233738968-233739379	HepG2	liver:	n/a	n/a
9	MYBL2	chr2:233738656-233739442	HepG2	liver:	n/a	n/a
10	ELF1	chr2:233738872-233739216	A549	lung:	n/a	chr2:233739055-233739068
11	SPI1	chr2:233738912-233739208	GM12891	blood:	n/a	n/a
12	SPI1	chr2:233738840-233739275	HL-60	blood:	n/a	n/a
13	MYBL2	chr2:233738429-233739569	HepG2	liver:	n/a	n/a
14	HDAC2	chr2:233738868-233739277	HepG2	liver:	n/a	n/a
15	HNF4A	chr2:233738897-233739317	HepG2	liver:	n/a	n/a
16	RAD21	chr2:233738888-233739259	A549	lung:	n/a	n/a
17	POLR2A	chr2:233738814-233739688	HepG2	liver:	n/a	n/a
18	HNF4A	chr2:233738963-233739200	HepG2	liver:	n/a	n/a
19	ELF1	chr2:233738815-233739253	K562	blood:	n/a	chr2:233739055-233739068
20	ELF1	chr2:233738776-233739349	HepG2	liver:	n/a	chr2:233739055-233739068
21	SPI1	chr2:233738857-233739171	GM12891	blood:	n/a	n/a
22	ELF1	chr2:233738829-233739338	HepG2	liver:	n/a	chr2:233739055-233739068
23	MBD4	chr2:233738688-233739372	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:233735463-233740850	HepG2	liver:	n/a	n/a
25	HNF4G	chr2:233738872-233739304	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:233737594-233750472	HepG2	liver:	n/a	n/a
27	HEY1	chr2:233738749-233739397	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:233737747-233739621	HepG2	liver:	n/a	n/a
29	HNF4A	chr2:233738768-233739290	HepG2	liver:	n/a	n/a
30	SPI1	chr2:233738938-233739177	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233723605..233727098-chr2:233736700..233739372,3	MCF-7	breast:
2	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:
3	chr2:233738643..233740986-chr2:234158854..234161597,2	MCF-7	breast:
4	chr2:233733606..233736774-chr2:233738541..233741120,3	K562	blood:

No data

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000182600	Chromatin interaction
ENSG00000085978	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11883745	0.81[EUR][1000 genomes]
rs11883794	0.83[EUR][1000 genomes]
rs11885029	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11885646	0.81[EUR][1000 genomes]
rs11890879	0.83[EUR][1000 genomes]
rs11892639	0.81[EUR][1000 genomes]
rs11894688	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11897789	0.83[EUR][1000 genomes]
rs11900295	0.83[EUR][1000 genomes]
rs11900327	0.83[EUR][1000 genomes]
rs11901015	0.83[EUR][1000 genomes]
rs2271702	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289913	0.83[EUR][1000 genomes]
rs2293781	0.81[EUR][1000 genomes]
rs2305138	0.81[EUR][1000 genomes]
rs2344614	0.83[EUR][1000 genomes]
rs2880899	0.81[EUR][1000 genomes]
rs34487721	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3738904	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816336	0.81[EUR][1000 genomes]
rs3817310	0.81[EUR][1000 genomes]
rs4144794	0.83[EUR][1000 genomes]
rs55686138	0.83[EUR][1000 genomes]
rs56140815	0.81[EUR][1000 genomes]
rs56344253	0.81[EUR][1000 genomes]
rs56357073	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56953250	0.83[EUR][1000 genomes]
rs57092158	0.83[EUR][1000 genomes]
rs57211905	0.81[EUR][1000 genomes]
rs57513852	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57657135	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57986228	0.81[EUR][1000 genomes]
rs58268778	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58466616	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58520085	0.83[EUR][1000 genomes]
rs58835825	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59488869	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59502980	0.81[EUR][1000 genomes]
rs59514271	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59667905	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60103392	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60532570	0.81[EUR][1000 genomes]
rs60726219	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61518838	0.86[EUR][1000 genomes]
rs6719766	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73092767	0.86[EUR][1000 genomes]
rs73092790	0.81[EUR][1000 genomes]
rs73102244	0.86[EUR][1000 genomes]
rs73102257	0.81[EUR][1000 genomes]
rs73102286	0.83[EUR][1000 genomes]
rs73106355	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73106363	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73107693	0.81[EUR][1000 genomes]
rs73108328	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73108346	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73995715	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73999704	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73999707	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7560000	0.83[EUR][1000 genomes]
rs7564410	0.83[EUR][1000 genomes]
rs7578385	0.81[EUR][1000 genomes]
rs7598518	0.83[EUR][1000 genomes]
rs7601559	0.83[EUR][1000 genomes]
rs7606011	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:233726000-233740400	Weak transcription	HMEC	breast
3	chr2:233726400-233739000	Weak transcription	Thymus	Thymus
4	chr2:233726400-233740200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:233726400-233740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:233726400-233740800	Weak transcription	HSMM	muscle
7	chr2:233726600-233739000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:233726600-233739200	Weak transcription	Left Ventricle	heart
9	chr2:233726600-233739800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:233726600-233740000	Weak transcription	Pancreas	Pancrea
11	chr2:233726600-233740200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:233726600-233740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:233726600-233740400	Weak transcription	Lung	lung
14	chr2:233726600-233740400	Weak transcription	NHEK	skin
15	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
16	chr2:233734200-233739600	Flanking Active TSS	HepG2	liver
17	chr2:233734400-233740400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:233734600-233740200	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:233734600-233740200	Enhancers	Brain Substantia Nigra	brain
20	chr2:233734800-233740200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:233735000-233739200	Enhancers	Brain Angular Gyrus	brain
22	chr2:233735000-233740000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:233735000-233740000	Genic enhancers	Fetal Intestine Small	intestine
24	chr2:233736400-233740200	Enhancers	Fetal Intestine Large	intestine
25	chr2:233736600-233740200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:233736800-233739400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:233736800-233740200	Weak transcription	Fetal Brain Male	brain
28	chr2:233737600-233739400	Weak transcription	Fetal Brain Female	brain
29	chr2:233737800-233739000	Enhancers	Brain Anterior Caudate	brain
30	chr2:233737800-233739400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:233737800-233739600	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:233738000-233739000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:233738000-233739400	Enhancers	Stomach Mucosa	stomach
34	chr2:233738000-233740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:233738000-233740000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:233738000-233740200	Enhancers	Colonic Mucosa	Colon
37	chr2:233738200-233740400	Enhancers	Liver	Liver
38	chr2:233738400-233739000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr2:233738400-233739400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:233738400-233739400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:233738400-233739400	Enhancers	Small Intestine	intestine
42	chr2:233738600-233739000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:233738600-233739000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:233738600-233739200	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:233738600-233739200	Enhancers	K562	blood
46	chr2:233738600-233739400	Weak transcription	Gastric	stomach
47	chr2:233738600-233740000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:233738600-233740200	Enhancers	A549	lung
49	chr2:233738600-233740600	Enhancers	Spleen	Spleen
50	chr2:233738800-233739000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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