Variant report

Variant	rs74103644
Chromosome Location	chr1:95539043-95539044
allele	A/G
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	NR2F2	chr1:95537902-95539266	K562	blood:	n/a	chr1:95538494-95538509
2	MTA3	chr1:95538079-95539206	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:95537954-95539075	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr1:95537860-95539164	GM12878	blood:	n/a	n/a
5	MYC	chr1:95537993-95539193	K562	blood:	n/a	n/a
6	STAT3	chr1:95537336-95539367	GM12878	blood:	n/a	chr1:95537563-95537570
7	POLR2A	chr1:95537633-95539115	PBDE	blood:	n/a	n/a
8	POLR2A	chr1:95538032-95539043	K562	blood:	n/a	n/a
9	POLR2A	chr1:95537781-95539224	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr1:95537993-95539044	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr1:95537926-95539054	SK-N-SH	brain:	n/a	chr1:95538465-95538474 chr1:95538465-95538476
12	MAZ	chr1:95537997-95539065	K562	blood:	n/a	n/a
13	RCOR1	chr1:95538008-95539222	K562	blood:	n/a	n/a
14	BHLHE40	chr1:95537683-95539148	K562	blood:	n/a	n/a
15	POLR2A	chr1:95538053-95539158	HCT-116	colon:	n/a	n/a
16	PML	chr1:95537818-95539195	GM12878	blood:	n/a	n/a
17	MXI1	chr1:95537476-95539172	IMR90	lung:	n/a	n/a
18	TBL1XR1	chr1:95538018-95539217	K562	blood:	n/a	n/a
19	ZNF384	chr1:95537894-95539080	GM12878	blood:	n/a	n/a
20	ZNF384	chr1:95537748-95539311	K562	blood:	n/a	n/a
21	POLR2A	chr1:95537850-95539154	U87	brain:	n/a	n/a
22	TAF1	chr1:95537995-95539064	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr1:95537906-95539236	K562	blood:	n/a	n/a
24	POLR2A	chr1:95537559-95539050	GM19099	blood:	n/a	n/a
25	POLR2A	chr1:95537958-95539049	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:95537885-95539154	U87	brain:	n/a	n/a
27	POLR2A	chr1:95537364-95539137	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr1:95537834-95539098	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr1:95537616-95539059	Raji	blood:	n/a	n/a
30	KAP1	chr1:95538091-95539084	HEK293	kidney:	n/a	n/a
31	POLR2A	chr1:95537978-95539228	HEK293	kidney:	n/a	n/a
32	ELF1	chr1:95537809-95539144	HCT-116	colon:	n/a	chr1:95538479-95538488 chr1:95538478-95538489
33	EP300	chr1:95537262-95539043	K562	blood:	n/a	chr1:95538479-95538486 chr1:95538980-95538994 chr1:95538976-95538990 chr1:95538982-95538996 chr1:95537714-95537724
34	POLR2A	chr1:95537190-95539220	GM12891	blood:	n/a	n/a
35	TBL1XR1	chr1:95538015-95539172	K562	blood:	n/a	n/a
36	POLR2A	chr1:95538003-95539115	K562	blood:	n/a	n/a
37	POLR2A	chr1:95537810-95539051	PFSK-1	brain:	n/a	n/a
38	ZMIZ1	chr1:95537917-95539174	K562	blood:	n/a	n/a
39	RCOR1	chr1:95538079-95539140	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:95538009-95539208	K562	blood:	n/a	n/a
41	MAX	chr1:95538033-95539048	A549	lung:	n/a	n/a
42	MAFK	chr1:95537987-95539122	K562	blood:	n/a	chr1:95538136-95538152
43	GTF2F1	chr1:95537663-95539230	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:95537739-95539046	GM18505	blood:	n/a	n/a
45	HEY1	chr1:95537745-95539218	HepG2	liver:	n/a	n/a
46	MXI1	chr1:95537644-95539214	GM12878	blood:	n/a	n/a
47	REST	chr1:95537888-95539195	H1-neurons	neurons:	n/a	n/a
48	USF2	chr1:95538404-95539204	Hela-S3	cervix:	n/a	n/a
49	MAX	chr1:95537979-95539105	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:95537176-95539251	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95537299..95540042-chr1:95699496..95701047,2	K562	blood:
2	chr1:95536810..95539827-chr1:95698878..95701315,3	K562	blood:
3	chr1:95538593..95540251-chr1:95544538..95546428,2	K562	blood:

Variant related genes	Relation type
ALG14	TF binding region
ENSG00000226026	Chromatin interaction
ENSG00000122481	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs41292697	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56032536	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56204307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57040913	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57093304	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57122039	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57213707	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57950891	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59130528	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59338711	0.93[EUR][1000 genomes]
rs59569067	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs60405904	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60491236	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60549805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60555923	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs60757816	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61488063	1.00[EUR][1000 genomes]
rs61772226	1.00[AFR][1000 genomes]
rs61774271	1.00[AFR][1000 genomes]
rs74101957	0.81[EUR][1000 genomes]
rs74101958	0.87[EUR][1000 genomes]
rs74101961	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs74101968	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs74101972	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs74101979	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101983	1.00[EUR][1000 genomes]
rs74101989	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101991	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101993	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101995	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101996	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101998	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101999	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74102002	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103604	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103606	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103607	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103608	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103627	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103628	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103629	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103634	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74103654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95537200-95539200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:95537200-95539200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:95537200-95539200	Active TSS	Colon Smooth Muscle	Colon
4	chr1:95537200-95539200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:95537400-95539200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:95537400-95539200	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:95537400-95539200	Active TSS	Psoas Muscle	Psoas
8	chr1:95537400-95539400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:95537600-95539200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:95537600-95539200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:95537600-95539200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:95537600-95539200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:95537600-95539200	Active TSS	Aorta	Aorta
14	chr1:95537600-95539200	Active TSS	Brain Substantia Nigra	brain
15	chr1:95537600-95539200	Active TSS	Colonic Mucosa	Colon
16	chr1:95537600-95539200	Active TSS	Fetal Intestine Small	intestine
17	chr1:95537600-95539200	Active TSS	Ovary	ovary
18	chr1:95537600-95539200	Active TSS	Right Ventricle	heart
19	chr1:95537600-95539400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:95537600-95539400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:95537600-95539400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:95537800-95539200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:95537800-95539200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:95537800-95539200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:95537800-95539200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:95537800-95539200	Active TSS	Esophagus	oesophagus
27	chr1:95537800-95539200	Active TSS	Fetal Brain Female	brain
28	chr1:95537800-95539200	Active TSS	Left Ventricle	heart
29	chr1:95537800-95539200	Active TSS	Pancreas	Pancrea
30	chr1:95537800-95539200	Active TSS	A549	lung
31	chr1:95537800-95539400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:95537800-95539400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:95537800-95539400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:95537800-95539400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:95537800-95539400	Active TSS	Brain Angular Gyrus	brain
36	chr1:95537800-95539400	Active TSS	Fetal Kidney	kidney
37	chr1:95537800-95539400	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:95538000-95539200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:95538200-95539200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:95538600-95539200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:95538600-95539200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:95538600-95539200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:95538600-95539200	Flanking Active TSS	Hela-S3	cervix
44	chr1:95538600-95539400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr1:95538800-95539200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:95538800-95539200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:95538800-95539200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr1:95538800-95539200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr1:95538800-95539200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:95538800-95539200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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