Variant report

Variant	rs2051137
Chromosome Location	chr1:62191275-62191276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr1:62190531-62191451	GM12878	blood:	n/a	n/a
2	TAF1	chr1:62190461-62191340	PFSK-1	brain:	n/a	n/a
3	TAF1	chr1:62190480-62191335	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:62190391-62191413	GM12878	blood:	n/a	n/a
5	TAF1	chr1:62190367-62191307	ECC-1	luminal epithelium:	n/a	n/a
6	GABPA	chr1:62190338-62191298	SK-N-SH	brain:	n/a	n/a
7	ARID3A	chr1:62190675-62191387	K562	blood:	n/a	n/a
8	SMC3	chr1:62190478-62191383	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:62190401-62191482	GM12878	blood:	n/a	n/a
10	E2F4	chr1:62190676-62191488	MCF10A-Er-Src	breast:	n/a	chr1:62191099-62191111
11	TFAP2C	chr1:62190566-62191353	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr1:62190461-62191290	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:62190293-62191364	PFSK-1	brain:	n/a	n/a
14	TEAD4	chr1:62190292-62191460	K562	blood:	n/a	n/a
15	FOS	chr1:62190798-62191332	MCF10A-Er-Src	breast:	n/a	n/a
16	MAZ	chr1:62190487-62191590	IMR90	lung:	n/a	n/a
17	POLR2A	chr1:62190346-62191384	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr1:62190353-62191338	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:62190411-62191517	SK-N-MC	brain:	n/a	n/a
20	RCOR1	chr1:62190159-62191496	K562	blood:	n/a	n/a
21	POLR2A	chr1:62190333-62191350	K562	blood:	n/a	n/a
22	EBF1	chr1:62190668-62191311	GM12878	blood:	n/a	n/a
23	EP300	chr1:62190874-62191462	Hela-S3	cervix:	n/a	chr1:62191420-62191434
24	ELF1	chr1:62190409-62191316	SK-N-SH	brain:	n/a	n/a
25	TCF7L2	chr1:62190802-62191408	HEK293	kidney:	n/a	n/a
26	GTF2F1	chr1:62190412-62191386	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:62190343-62191430	U87	brain:	n/a	n/a
28	POLR2A	chr1:62190318-62191440	GM19099	blood:	n/a	n/a
29	POLR2A	chr1:62191262-62191275	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:62190527-62191282	H1-hESC	embryonic stem cell:	n/a	n/a
31	GABPA	chr1:62190277-62191370	HL-60	blood:	n/a	n/a
32	E2F6	chr1:62190502-62191382	H1-hESC	embryonic stem cell:	n/a	chr1:62191099-62191111
33	TAF1	chr1:62190432-62191314	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr1:62190549-62191303	SK-N-SH	brain:	n/a	n/a
35	MAZ	chr1:62190410-62191414	K562	blood:	n/a	n/a
36	POLR2A	chr1:62190184-62191293	K562	blood:	n/a	n/a
37	POLR2A	chr1:62190310-62191460	GM12892	blood:	n/a	n/a
38	MAX	chr1:62190562-62191335	NB4	blood:	n/a	n/a
39	POLR2A	chr1:62190382-62191381	HCT-116	colon:	n/a	n/a
40	POLR2A	chr1:62190149-62191715	GM12891	blood:	n/a	n/a
41	POLR2A	chr1:62190329-62191329	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr1:62190372-62191306	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr1:62190523-62191324	HCT-116	colon:	n/a	n/a
44	POLR2A	chr1:62190415-62191408	GM15510	blood:	n/a	n/a
45	ZNF384	chr1:62191028-62191527	GM12878	blood:	n/a	n/a
46	MYC	chr1:62190200-62191308	K562	blood:	n/a	n/a
47	PBX3	chr1:62190547-62191524	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr1:62190393-62191410	GM12892	blood:	n/a	n/a
49	NFATC1	chr1:62190449-62191328	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:62190312-62191382	Raji	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:62190630..62191606-chr1:62207469..62208515,4	Hela-S3	cervix:
2	chr1:62190578..62191466-chr15:67834688..67835248,2	Hela-S3	cervix:
3	chr1:62190741..62191394-chr22:21356189..21356825,2	HCT-116	colon:
4	chr1:62148615..62150124-chr1:62189264..62192017,2	MCF-7	breast:
5	chr1:62190320..62192154-chr1:62900473..62901978,2	MCF-7	breast:
6	chr1:62173473..62177807-chr1:62188633..62191997,6	K562	blood:
7	chr1:62190788..62191431-chr17:19551361..19552028,2	Hela-S3	cervix:
8	chr1:62190770..62191552-chr17:6544028..6544721,2	Hela-S3	cervix:
9	chr1:62149064..62151297-chr1:62189288..62192078,2	K562	blood:
10	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
11	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:
12	chr1:62190454..62191331-chr20:49574829..49575352,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TM2D1	TF binding region
ENSG00000270964	Chromatin interaction
ENSG00000137764	Chromatin interaction
ENSG00000129235	Chromatin interaction
ENSG00000162604	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000072210	Chromatin interaction
ENSG00000132849	Chromatin interaction
ENSG00000271200	Chromatin interaction
ENSG00000198920	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000000419	Chromatin interaction
ENSG00000162607	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493311	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11539585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1353424	1.00[EUR][1000 genomes]
rs17122675	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122684	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890262	1.00[EUR][1000 genomes]
rs57862885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57901641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61285999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698090	1.00[EUR][1000 genomes]
rs72925623	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72925628	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544197	1.00[EUR][1000 genomes]
rs7551993	1.00[EUR][1000 genomes]
rs7554012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62189000-62191400	Active TSS	NHLF	lung
2	chr1:62189200-62191600	Active TSS	K562	blood
3	chr1:62189400-62191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:62189400-62191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:62189400-62191600	Active TSS	Fetal Lung	lung
6	chr1:62189400-62191800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:62189400-62191800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:62189400-62191800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:62189600-62191400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:62189600-62191400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:62189600-62191400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:62189600-62191400	Active TSS	Colonic Mucosa	Colon
13	chr1:62189600-62191400	Active TSS	Left Ventricle	heart
14	chr1:62189600-62191400	Active TSS	Psoas Muscle	Psoas
15	chr1:62189600-62191400	Active TSS	Right Ventricle	heart
16	chr1:62189600-62191600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:62189600-62191600	Active TSS	Brain Angular Gyrus	brain
18	chr1:62189600-62191600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:62189600-62191600	Active TSS	Right Atrium	heart
20	chr1:62189600-62191600	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:62189600-62191600	Active TSS	A549	lung
22	chr1:62189600-62191600	Active TSS	NHDF-Ad	bronchial
23	chr1:62189800-62191400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:62189800-62191400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:62189800-62191400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:62189800-62191400	Active TSS	Fetal Heart	heart
27	chr1:62189800-62191400	Active TSS	Osteobl	bone
28	chr1:62189800-62191600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:62189800-62191600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:62189800-62191600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:62189800-62191600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:62189800-62191600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:62189800-62191600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:62189800-62191600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:62189800-62191800	Active TSS	GM12878-XiMat	blood
36	chr1:62190000-62191400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:62190000-62191400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:62190000-62191400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:62190000-62191400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:62190000-62191400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:62190000-62191400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:62190000-62191400	Active TSS	Esophagus	oesophagus
43	chr1:62190000-62191400	Active TSS	Fetal Intestine Large	intestine
44	chr1:62190000-62191400	Active TSS	Placenta	Placenta
45	chr1:62190000-62191400	Active TSS	Lung	lung
46	chr1:62190000-62191400	Active TSS	Ovary	ovary
47	chr1:62190000-62191400	Active TSS	Pancreas	Pancrea
48	chr1:62190000-62191600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:62190000-62191600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:62190000-62191600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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