Variant report

Variant	rs61190947
Chromosome Location	chr2:113484173-113484174
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	MAZ	chr2:113484128-113485071	IMR90	lung:	n/a	chr2:113485038-113485048
2	TBL1XR1	chr2:113484116-113484616	GM12878	blood:	n/a	n/a
3	CHD2	chr2:113484173-113484651	HepG2	liver:	n/a	n/a
4	TBL1XR1	chr2:113484169-113484659	K562	blood:	n/a	n/a
5	POLR2A	chr2:113484153-113484656	HCT-116	colon:	n/a	n/a
6	CTCF	chr2:113483515-113484999	HCT-116	colon:	n/a	chr2:113483786-113483807 chr2:113483797-113483806 chr2:113483791-113483809 chr2:113484173-113484182
7	RAD21	chr2:113484099-113484744	MCF-7	breast:	n/a	n/a
8	NFIC	chr2:113484094-113484611	HepG2	liver:	n/a	n/a
9	SPI1	chr2:113484105-113484566	GM12891	blood:	n/a	n/a
10	RELA	chr2:113484074-113484624	GM19099	blood:	n/a	n/a
11	CTCF	chr2:113484159-113484771	HCT-116	colon:	n/a	chr2:113484173-113484182
12	EBF1	chr2:113483398-113484689	GM12878	blood:	n/a	chr2:113484031-113484044 chr2:113483616-113483627 chr2:113484223-113484232
13	RCOR1	chr2:113484092-113484656	HepG2	liver:	n/a	n/a
14	RAD21	chr2:113484098-113484801	IMR90	lung:	n/a	n/a
15	RUNX3	chr2:113484159-113484693	GM12878	blood:	n/a	n/a
16	CTCF	chr2:113484040-113484190	NHLF	lung:	n/a	chr2:113484173-113484182
17	POU2F2	chr2:113484162-113484719	GM12878	blood:	n/a	n/a
18	SMC3	chr2:113483568-113484717	GM12878	blood:	n/a	chr2:113483793-113483807 chr2:113483800-113483807 chr2:113484169-113484183
19	STAT5A	chr2:113484135-113484672	GM12878	blood:	n/a	n/a
20	FOXM1	chr2:113484067-113484819	GM12878	blood:	n/a	n/a
21	RAD21	chr2:113484105-113484802	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr2:113484115-113484713	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr2:113483665-113484270	K562	blood:	n/a	n/a
24	RAD21	chr2:113484139-113484704	HepG2	liver:	n/a	n/a
25	CTCF	chr2:113483485-113484920	A549	lung:	n/a	chr2:113483786-113483807 chr2:113483797-113483806 chr2:113483791-113483809 chr2:113484173-113484182
26	IRF4	chr2:113484143-113484703	GM12878	blood:	n/a	n/a
27	CHD1	chr2:113484102-113484603	GM12878	blood:	n/a	n/a
28	RAD21	chr2:113484077-113484825	MCF-7	breast:	n/a	n/a
29	BRCA1	chr2:113484095-113484616	GM12878	blood:	n/a	n/a
30	MYBL2	chr2:113484069-113484689	HepG2	liver:	n/a	n/a
31	SMC3	chr2:113483645-113484726	Hela-S3	cervix:	n/a	chr2:113483793-113483807 chr2:113483800-113483807 chr2:113484169-113484183
32	CTCF	chr2:113484024-113484708	HepG2	liver:	n/a	chr2:113484173-113484182
33	RAD21	chr2:113484107-113484739	A549	lung:	n/a	n/a
34	EP300	chr2:113484137-113484628	HepG2	liver:	n/a	n/a
35	NR2F2	chr2:113484073-113484708	K562	blood:	n/a	n/a
36	RAD21	chr2:113484087-113484792	ECC-1	luminal epithelium:	n/a	n/a
37	TCF12	chr2:113484149-113484760	A549	lung:	n/a	n/a
38	MAZ	chr2:113484055-113484667	HepG2	liver:	n/a	n/a
39	JUND	chr2:113483354-113484686	GM12878	blood:	n/a	chr2:113483567-113483575 chr2:113483568-113483575
40	RUNX3	chr2:113483954-113484673	GM12878	blood:	n/a	n/a
41	CTCF	chr2:113484170-113484698	A549	lung:	n/a	chr2:113484173-113484182
42	RAD21	chr2:113483892-113484909	A549	lung:	n/a	n/a
43	POLR2A	chr2:113483970-113484787	K562	blood:	n/a	n/a
44	TEAD4	chr2:113484117-113484700	HepG2	liver:	n/a	n/a
45	MAZ	chr2:113484136-113484660	GM12878	blood:	n/a	n/a
46	CHD1	chr2:113484034-113484893	IMR90	lung:	n/a	n/a
47	SMC3	chr2:113484115-113484784	K562	blood:	n/a	chr2:113484169-113484183
48	RAD21	chr2:113484110-113484769	HepG2	liver:	n/a	n/a
49	RFX5	chr2:113483858-113484644	HepG2	liver:	n/a	n/a
50	ZEB1	chr2:113483209-113484889	HepG2	liver:	n/a	chr2:113483982-113483990 chr2:113483843-113483852 chr2:113483609-113483616

No.	Distal block	Cell Line	Cell type
1	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
2	chr2:113357420..113358272-chr2:113483946..113484977,12	K562	blood:
3	chr2:113470986..113471535-chr2:113484133..113484894,2	K562	blood:
4	chr2:113383817..113384789-chr2:113484041..113484921,7	MCF-7	breast:
5	chr2:113402591..113403420-chr2:113483970..113484957,3	K562	blood:
6	chr2:113340042..113340549-chr2:113483924..113484572,2	K562	blood:
7	chr2:113341937..113342805-chr2:113484002..113484522,2	K562	blood:
8	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
9	chr2:113297047..113302352-chr2:113483159..113487384,5	K562	blood:
10	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
11	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
12	chr2:113482871..113484637-chr2:113485555..113488424,2	K562	blood:
13	chr2:113415099..113418730-chr2:113484170..113487314,3	K562	blood:
14	chr2:113340008..113343992-chr2:113483304..113487579,6	K562	blood:
15	chr2:113237844..113240182-chr2:113482913..113484469,2	MCF-7	breast:
16	chr2:113484028..113484731-chr2:113642145..113642705,2	K562	blood:
17	chr2:113383746..113384937-chr2:113484019..113484887,5	MCF-7	breast:
18	chr2:113480533..113482697-chr2:113482909..113484492,2	K562	blood:
19	chr2:113478980..113481125-chr2:113482565..113484434,2	MCF-7	breast:
20	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
21	chr2:113339955..113341936-chr2:113481777..113484601,3	MCF-7	breast:
22	chr2:113357362..113358295-chr2:113483923..113484596,5	MCF-7	breast:
23	chr2:113338959..113342918-chr2:113483353..113487579,5	K562	blood:
24	chr2:113447408..113450068-chr2:113484150..113486328,2	MCF-7	breast:

Variant related genes	Relation type
NT5DC4	TF binding region
ENSG00000144136	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000114999	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000125611	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3783570	0.85[AFR][1000 genomes]
rs3783583	0.85[AFR][1000 genomes]
rs72952121	0.93[AFR][1000 genomes]
rs72952124	0.93[AFR][1000 genomes]
rs73955265	1.00[AFR][1000 genomes]
rs884659	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
3	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:113479400-113485200	Enhancers	K562	blood
6	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:113481800-113484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:113481800-113486600	Enhancers	Placenta	Placenta
10	chr2:113482200-113484400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:113482200-113484800	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:113482200-113485000	Enhancers	Hela-S3	cervix
13	chr2:113482200-113485200	Enhancers	HMEC	breast
14	chr2:113482400-113484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:113482400-113484800	Enhancers	Fetal Intestine Large	intestine
16	chr2:113482400-113484800	Enhancers	Fetal Intestine Small	intestine
17	chr2:113482600-113484200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:113482600-113484400	Enhancers	A549	lung
19	chr2:113482600-113484800	Enhancers	NHEK	skin
20	chr2:113482800-113484800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:113483000-113484200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:113483000-113488200	Enhancers	Spleen	Spleen
23	chr2:113483600-113484200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:113483600-113484400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:113483600-113484400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:113483600-113484400	Flanking Active TSS	GM12878-XiMat	blood
27	chr2:113483600-113484600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:113483600-113484600	Enhancers	NH-A	brain
29	chr2:113483600-113484800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:113483600-113484800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:113483600-113484800	Enhancers	Fetal Brain Male	brain
32	chr2:113483600-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:113483800-113484200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:113483800-113484600	Enhancers	Colonic Mucosa	Colon
35	chr2:113483800-113484800	Enhancers	Primary B cells from cord blood	blood
36	chr2:113483800-113484800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:113483800-113488200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:113484000-113484200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:113484000-113484400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:113484000-113484400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:113484000-113484400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:113484000-113484400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:113484000-113484400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:113484000-113484400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:113484000-113484400	Enhancers	Adipose Nuclei	Adipose
46	chr2:113484000-113484400	Enhancers	Brain Anterior Caudate	brain
47	chr2:113484000-113484400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:113484000-113484400	Enhancers	Brain Substantia Nigra	brain
49	chr2:113484000-113484400	Enhancers	Fetal Heart	heart
50	chr2:113484000-113484400	Enhancers	Fetal Muscle Trunk	muscle

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