Variant report

Variant	rs72864824
Chromosome Location	chr2:37570832-37570833
allele	A/T
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	RAD21	chr2:37570566-37570925	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr2:37570720-37570870	NHEK	skin:	n/a	n/a
3	FOS	chr2:37570755-37571123	HUVEC	blood vessel:	n/a	chr2:37570951-37570961 chr2:37570952-37570960 chr2:37570951-37570961 chr2:37570950-37570961 chr2:37570952-37570960 chr2:37570951-37570961 chr2:37570951-37570961 chr2:37570952-37570959
4	CTCF	chr2:37570700-37570850	HMEC	breast:	n/a	n/a
5	STAT3	chr2:37570712-37570934	MCF10A-Er-Src	breast:	n/a	chr2:37570926-37570934 chr2:37570782-37570789
6	RAD21	chr2:37570616-37570948	HepG2	liver:	n/a	n/a
7	CTCF	chr2:37570578-37570945	IMR90	lung:	n/a	n/a
8	CTCF	chr2:37570740-37570890	AG04450	lung:	n/a	n/a
9	CTCF	chr2:37570700-37570850	HEK293	kidney:	n/a	n/a
10	CTCF	chr2:37570686-37570865	MCF-7	breast:	n/a	n/a
11	EGR1	chr2:37570647-37570992	K562	blood:	n/a	chr2:37570835-37570850 chr2:37570836-37570849 chr2:37570837-37570848
12	STAT3	chr2:37570609-37571134	MCF10A-Er-Src	breast:	n/a	chr2:37570923-37570937 chr2:37570924-37570935 chr2:37570926-37570934 chr2:37570782-37570789
13	CTCF	chr2:37570700-37570850	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr2:37570700-37570850	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:37570780-37570930	WI-38	lung:	n/a	n/a
16	FOXA1	chr2:37570490-37571310	HepG2	liver:	n/a	n/a
17	STAT3	chr2:37570601-37571047	MCF10A-Er-Src	breast:	n/a	chr2:37570923-37570937 chr2:37570924-37570935 chr2:37570926-37570934 chr2:37570782-37570789
18	RAD21	chr2:37570611-37570861	GM12878	blood:	n/a	n/a
19	CTCF	chr2:37570700-37570850	AG04449	skin:	n/a	n/a
20	CTCF	chr2:37570629-37570879	SK-N-SH_RA	brain:	n/a	n/a
21	FOS	chr2:37570808-37571125	MCF10A-Er-Src	breast:	n/a	chr2:37570951-37570961 chr2:37570952-37570960 chr2:37570951-37570961 chr2:37570950-37570961 chr2:37570952-37570960 chr2:37570951-37570961 chr2:37570951-37570961 chr2:37570952-37570959
22	CTCF	chr2:37570720-37570870	HVMF	connective:	n/a	n/a
23	RCOR1	chr2:37570705-37571046	K562	blood:	n/a	n/a
24	CTCF	chr2:37570740-37570890	BE2_C	brain:	n/a	n/a
25	CTCF	chr2:37570720-37570870	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr2:37570720-37570870	AG04450	lung:	n/a	n/a
27	CTCF	chr2:37570638-37570916	K562	blood:	n/a	n/a
28	FOXA1	chr2:37570639-37570848	T-47D	breast:	n/a	n/a
29	CTCF	chr2:37570720-37570870	BJ	skin:	n/a	n/a
30	CTCF	chr2:37570740-37570890	AG09309	skin:	n/a	n/a
31	FOS	chr2:37570794-37571093	MCF10A-Er-Src	breast:	n/a	chr2:37570951-37570961 chr2:37570952-37570960 chr2:37570951-37570961 chr2:37570950-37570961 chr2:37570952-37570960 chr2:37570951-37570961 chr2:37570951-37570961 chr2:37570952-37570959
32	CTCF	chr2:37570700-37570850	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr2:37570700-37570850	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr2:37570720-37570870	WERI-Rb-1	eye:	n/a	n/a
35	MYC	chr2:37570730-37570851	NB4	blood:	n/a	n/a
36	CTCF	chr2:37570700-37570850	MCF-7	breast:	n/a	n/a
37	RAD21	chr2:37570552-37570982	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr2:37570618-37570902	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOXA2	chr2:37570619-37570840	HepG2	liver:	n/a	n/a
40	CTCF	chr2:37570700-37570850	AG09309	skin:	n/a	n/a
41	RAD21	chr2:37570536-37570932	A549	lung:	n/a	n/a
42	CTCF	chr2:37570522-37570972	A549	lung:	n/a	n/a
43	RAD21	chr2:37570609-37570862	HepG2	liver:	n/a	n/a
44	RAD21	chr2:37570608-37570914	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr2:37570720-37570870	RPTEC	kidney:	n/a	n/a
46	SMC3	chr2:37570607-37571148	HepG2	liver:	n/a	n/a
47	CTCF	chr2:37570700-37570850	GM12865	blood:	n/a	n/a
48	FOXA1	chr2:37570592-37571224	HepG2	liver:	n/a	n/a
49	CTCF	chr2:37570664-37570856	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr2:37570697-37570854	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37569565..37571229-chr2:37584533..37586394,2	K562	blood:

Variant related genes	Relation type
QPCT	TF binding region
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57555618	0.83[AFR][1000 genomes]
rs72863190	0.87[AFR][1000 genomes]
rs72864827	0.89[AFR][1000 genomes];1.00[AMR][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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37568000-37571600	Weak transcription	Ovary	ovary
2	chr2:37569200-37571200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:37569400-37571400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:37569600-37571000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:37569800-37571200	Enhancers	Fetal Lung	lung
6	chr2:37569800-37571400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:37569800-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:37569800-37571400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:37569800-37571600	Enhancers	Left Ventricle	heart
10	chr2:37570000-37571200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:37570000-37571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:37570000-37571400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:37570000-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:37570000-37571400	Enhancers	HUVEC	blood vessel
15	chr2:37570000-37571400	Enhancers	NH-A	brain
16	chr2:37570200-37571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:37570200-37571000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:37570200-37571000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:37570200-37571000	Weak transcription	HSMMtube	muscle
20	chr2:37570200-37571400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:37570200-37571400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:37570200-37571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:37570200-37571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:37570200-37571600	Weak transcription	Spleen	Spleen
25	chr2:37570400-37571400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:37570400-37571400	Enhancers	Osteobl	bone
27	chr2:37570400-37571600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:37570400-37571600	Enhancers	HMEC	breast
29	chr2:37570600-37571200	Enhancers	Primary T cells from cord blood	blood
30	chr2:37570600-37571200	Bivalent Enhancer	HepG2	liver
31	chr2:37570600-37571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:37570600-37571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:37570600-37571400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:37570600-37571400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:37570600-37571400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:37570600-37571400	Enhancers	NHEK	skin
37	chr2:37570600-37571600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:37570600-37571600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:37570600-37571800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:37570800-37571000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:37570800-37571000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:37570800-37571000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:37570800-37571000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr2:37570800-37571200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:37570800-37571200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:37570800-37571200	Enhancers	Placenta	Placenta
47	chr2:37570800-37571200	Enhancers	A549	lung
48	chr2:37570800-37571400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:37570800-37571400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:37570800-37571400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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