Variant report

Variant	rs73901814
Chromosome Location	chr20:23330003-23330004
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23329986-23332360	Raji	blood:	n/a	n/a
2	POLR2A	chr20:23329932-23330034	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr20:23329878-23332407	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr20:23329928-23332549	GM12878	blood:	n/a	n/a
5	GTF2F1	chr20:23329965-23331448	Hela-S3	cervix:	n/a	n/a
6	RELA	chr20:23330002-23332421	GM12891	blood:	n/a	chr20:23332294-23332303 chr20:23331480-23331489 chr20:23331480-23331489 chr20:23332294-23332303
7	MAFF	chr20:23329980-23330164	HepG2	liver:	n/a	n/a
8	GATA3	chr20:23329948-23330288	T-47D	breast:	n/a	n/a
9	POLR2A	chr20:23329648-23333051	GM12878	blood:	n/a	n/a
10	POLR2A	chr20:23329944-23331709	HepG2	liver:	n/a	n/a
11	CHD2	chr20:23329971-23330134	HepG2	liver:	n/a	n/a
12	POLR2A	chr20:23329714-23332919	IMR90	lung:	n/a	n/a
13	MYC	chr20:23329608-23332518	A549	lung:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
14	MXI1	chr20:23329728-23332953	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr20:23329826-23330119	GM12878	blood:	n/a	n/a
16	CTCF	chr20:23329801-23331682	SK-N-SH	brain:	n/a	chr20:23330477-23330493 chr20:23330478-23330499 chr20:23330479-23330492 chr20:23330476-23330494
17	POLR2A	chr20:23329946-23332348	HepG2	liver:	n/a	n/a
18	POLR2A	chr20:23329948-23332404	GM12891	blood:	n/a	n/a
19	CHD1	chr20:23329900-23332842	IMR90	lung:	n/a	n/a
20	MXI1	chr20:23329824-23333171	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23187473..23190139-chr20:23328538..23331366,2	MCF-7	breast:
2	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
3	chr20:23321273..23323325-chr20:23328933..23330875,2	K562	blood:
4	chr20:23022684..23024263-chr20:23328966..23331361,2	MCF-7	breast:
5	chr20:23112159..23115128-chr20:23328465..23330957,2	K562	blood:
6	chr20:23029084..23031719-chr20:23329992..23332006,2	K562	blood:
7	chr20:23325694..23327438-chr20:23329149..23330658,2	MCF-7	breast:

Variant related genes	Relation type
NXT1	TF binding region
ENSG00000233746	Chromatin interaction
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs36010049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939409	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56122110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56830667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57226979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57368405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57456391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57782497	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57842978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58592887	1.00[EUR][1000 genomes]
rs59499588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59893880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60127144	1.00[EUR][1000 genomes]
rs6036425	1.00[EUR][1000 genomes]
rs60394866	1.00[EUR][1000 genomes]
rs6048735	1.00[EUR][1000 genomes]
rs6106654	1.00[EUR][1000 genomes]
rs6106670	1.00[EUR][1000 genomes]
rs6114092	1.00[EUR][1000 genomes]
rs6114096	1.00[EUR][1000 genomes]
rs6114099	1.00[EUR][1000 genomes]
rs6114102	1.00[EUR][1000 genomes]
rs6114143	1.00[EUR][1000 genomes]
rs6114148	1.00[EUR][1000 genomes]
rs6114149	1.00[EUR][1000 genomes]
rs7263724	1.00[EUR][1000 genomes]
rs73901804	1.00[EUR][1000 genomes]
rs73901806	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73901807	1.00[EUR][1000 genomes]
rs73901808	1.00[EUR][1000 genomes]
rs73901810	1.00[EUR][1000 genomes]
rs73901812	1.00[EUR][1000 genomes]
rs73901818	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901819	1.00[EUR][1000 genomes]
rs73901821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901863	1.00[EUR][1000 genomes]
rs73901872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73904260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73904261	1.00[EUR][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23327000-23330400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23327000-23330800	Weak transcription	Spleen	Spleen
3	chr20:23329000-23330200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:23329400-23330200	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23329400-23330200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr20:23329400-23330400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr20:23329400-23330400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr20:23329400-23330400	Enhancers	Placenta	Placenta
9	chr20:23329400-23330600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:23329600-23330200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:23329600-23330200	Enhancers	Primary B cells from cord blood	blood
12	chr20:23329600-23330200	Enhancers	Primary B cells from peripheral blood	blood
13	chr20:23329600-23330200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr20:23329600-23330200	Flanking Active TSS	Hela-S3	cervix
15	chr20:23329800-23330200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:23329800-23330200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr20:23329800-23330200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:23329800-23330200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr20:23329800-23330200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr20:23329800-23330200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:23329800-23330200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr20:23329800-23330200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr20:23329800-23330200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr20:23329800-23330200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr20:23329800-23330200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr20:23329800-23330200	Flanking Active TSS	A549	lung
27	chr20:23329800-23330200	Flanking Active TSS	GM12878-XiMat	blood
28	chr20:23329800-23330200	Flanking Active TSS	HMEC	breast
29	chr20:23329800-23330200	Flanking Active TSS	K562	blood
30	chr20:23329800-23330400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr20:23329800-23330400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr20:23329800-23330400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:23329800-23330400	Enhancers	Fetal Thymus	thymus
34	chr20:23329800-23330400	Enhancers	Stomach Mucosa	stomach
35	chr20:23329800-23330400	Flanking Active TSS	Thymus	Thymus
36	chr20:23329800-23330600	Flanking Active TSS	Dnd41	blood
37	chr20:23329800-23330800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr20:23329800-23331200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr20:23329800-23331200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:23329800-23333600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr20:23330000-23330200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr20:23330000-23330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:23330000-23330200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr20:23330000-23330200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:23330000-23330200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr20:23330000-23330200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr20:23330000-23330200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr20:23330000-23330200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr20:23330000-23330200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr20:23330000-23330200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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