Variant report

Variant	rs60718983
Chromosome Location	chr2:39356003-39356004
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	CEBPB	chr2:39355994-39356253	K562	blood:	n/a	chr2:39356118-39356129
2	CEBPB	chr2:39355950-39356484	GM12878	blood:	n/a	chr2:39356118-39356129
3	CEBPB	chr2:39355891-39356266	A549	lung:	n/a	chr2:39356118-39356129
4	ZNF384	chr2:39355922-39356349	GM12878	blood:	n/a	n/a
5	IRF4	chr2:39355960-39356451	GM12878	blood:	n/a	n/a
6	RUNX3	chr2:39355903-39356455	GM12878	blood:	n/a	n/a
7	CEBPB	chr2:39355982-39356290	GM12878	blood:	n/a	chr2:39356118-39356129
8	POU2F2	chr2:39355970-39356477	GM12878	blood:	n/a	n/a
9	ATF2	chr2:39355991-39356403	GM12878	blood:	n/a	n/a
10	TEAD4	chr2:39355838-39356388	HepG2	liver:	n/a	n/a
11	IRF4	chr2:39355971-39356401	GM12878	blood:	n/a	n/a
12	CEBPB	chr2:39355939-39356316	A549	lung:	n/a	chr2:39356118-39356129
13	ARID3A	chr2:39355980-39356487	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:39355949-39356311	Hela-S3	cervix:	n/a	chr2:39356118-39356129
15	CEBPB	chr2:39355934-39356316	HepG2	liver:	n/a	chr2:39356118-39356129
16	CEBPB	chr2:39355956-39356282	H1-hESC	embryonic stem cell:	n/a	chr2:39356118-39356129
17	CEBPB	chr2:39355937-39356311	K562	blood:	n/a	chr2:39356118-39356129
18	SP1	chr2:39355995-39356586	GM12878	blood:	n/a	n/a
19	EP300	chr2:39355992-39356458	GM12878	blood:	n/a	n/a
20	CEBPB	chr2:39355933-39356314	IMR90	lung:	n/a	chr2:39356118-39356129
21	CUX1	chr2:39355994-39356225	GM12878	blood:	n/a	n/a
22	CEBPB	chr2:39355995-39356259	MCF-7	breast:	n/a	chr2:39356118-39356129
23	CEBPB	chr2:39355995-39356200	HepG2	liver:	n/a	chr2:39356118-39356129

No.	Distal block	Cell Line	Cell type
1	chr2:39350652..39353712-chr2:39355009..39357216,3	K562	blood:
2	chr2:39350652..39354915-chr2:39355009..39358498,5	K562	blood:
3	chr2:39346435..39348442-chr2:39355964..39358856,3	MCF-7	breast:

Variant related genes	Relation type
SOS1	TF binding region
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57866617	0.95[ASN][1000 genomes]
rs58020380	1.00[AMR][1000 genomes]
rs61392383	0.95[ASN][1000 genomes]
rs72909679	0.81[ASN][1000 genomes]
rs72909693	0.95[ASN][1000 genomes]
rs7559174	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39352400-39356800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:39352600-39356400	Weak transcription	Small Intestine	intestine
3	chr2:39352600-39356600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:39352800-39362800	Weak transcription	Thymus	Thymus
5	chr2:39352800-39368600	Weak transcription	HMEC	breast
6	chr2:39354200-39356600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:39354200-39357800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:39354200-39358400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:39354400-39356400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:39354400-39357600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:39354400-39358600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:39354400-39358600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:39354600-39356600	Enhancers	Adipose Nuclei	Adipose
14	chr2:39354600-39358000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:39354600-39358600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:39354800-39356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:39354800-39357400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:39355000-39356400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:39355000-39356600	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:39355000-39356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:39355000-39357200	Enhancers	Primary B cells from cord blood	blood
22	chr2:39355000-39357200	Enhancers	Dnd41	blood
23	chr2:39355000-39357400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:39355000-39357600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:39355000-39357800	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:39355000-39358400	Enhancers	Primary T cells from cord blood	blood
27	chr2:39355000-39358400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:39355200-39356600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:39355200-39356800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:39355200-39356800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:39355200-39356800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:39355200-39357000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:39355200-39357200	Enhancers	Fetal Intestine Large	intestine
34	chr2:39355200-39357200	Enhancers	Fetal Intestine Small	intestine
35	chr2:39355200-39357200	Enhancers	Fetal Thymus	thymus
36	chr2:39355200-39357400	Enhancers	HepG2	liver
37	chr2:39355400-39356200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:39355400-39356400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:39355400-39366000	Weak transcription	Hela-S3	cervix
40	chr2:39355600-39356600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:39355600-39356800	Weak transcription	NHLF	lung
42	chr2:39355600-39356800	Enhancers	Osteobl	bone
43	chr2:39355600-39357200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:39355600-39357400	Enhancers	NHDF-Ad	bronchial
45	chr2:39355600-39359200	Weak transcription	K562	blood
46	chr2:39355800-39357200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:39356000-39356400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:39356000-39356400	Active TSS	GM12878-XiMat	blood
49	chr2:39356000-39358600	Enhancers	Primary T helper cells PMA-I stimulated	--

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