Variant report

Variant	rs3755191
Chromosome Location	chr2:37570780-37570781
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	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	chr2:37570724-37570820	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr2:37570680-37570830	HL-60	blood:	n/a	n/a
9	CTCF	chr2:37570578-37570945	IMR90	lung:	n/a	n/a
10	CTCF	chr2:37570660-37570810	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr2:37570740-37570890	AG04450	lung:	n/a	n/a
12	CTCF	chr2:37570641-37570821	A549	lung:	n/a	n/a
13	CTCF	chr2:37570700-37570850	HEK293	kidney:	n/a	n/a
14	CTCF	chr2:37570686-37570865	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:37570680-37570830	BE2_C	brain:	n/a	n/a
16	EGR1	chr2:37570647-37570992	K562	blood:	n/a	chr2:37570835-37570850 chr2:37570836-37570849 chr2:37570837-37570848
17	STAT3	chr2:37570609-37571134	MCF10A-Er-Src	breast:	n/a	chr2:37570923-37570937 chr2:37570924-37570935 chr2:37570926-37570934 chr2:37570782-37570789
18	CTCF	chr2:37570700-37570850	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr2:37570700-37570850	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr2:37570680-37570830	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr2:37570780-37570930	WI-38	lung:	n/a	n/a
22	CTCF	chr2:37570680-37570830	HCT-116	colon:	n/a	n/a
23	CTCF	chr2:37570660-37570810	NHDF-neo	bronchial:	n/a	n/a
24	FOXA1	chr2:37570490-37571310	HepG2	liver:	n/a	n/a
25	STAT3	chr2:37570601-37571047	MCF10A-Er-Src	breast:	n/a	chr2:37570923-37570937 chr2:37570924-37570935 chr2:37570926-37570934 chr2:37570782-37570789
26	RAD21	chr2:37570611-37570861	GM12878	blood:	n/a	n/a
27	CTCF	chr2:37570700-37570850	AG04449	skin:	n/a	n/a
28	CTCF	chr2:37570629-37570879	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr2:37570660-37570810	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr2:37570720-37570870	HVMF	connective:	n/a	n/a
31	RCOR1	chr2:37570705-37571046	K562	blood:	n/a	n/a
32	CTCF	chr2:37570740-37570890	BE2_C	brain:	n/a	n/a
33	CTCF	chr2:37570680-37570830	HCFaa	heart:	n/a	n/a
34	CTCF	chr2:37570720-37570870	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr2:37570640-37570790	RPTEC	kidney:	n/a	n/a
36	CTCF	chr2:37570720-37570870	AG04450	lung:	n/a	n/a
37	CTCF	chr2:37570669-37570827	K562	blood:	n/a	n/a
38	CTCF	chr2:37570638-37570916	K562	blood:	n/a	n/a
39	FOXA1	chr2:37570639-37570848	T-47D	breast:	n/a	n/a
40	CTCF	chr2:37570720-37570870	BJ	skin:	n/a	n/a
41	CTCF	chr2:37570740-37570890	AG09309	skin:	n/a	n/a
42	CTCF	chr2:37570708-37570801	Medullo	brain:	n/a	n/a
43	CTCF	chr2:37570700-37570850	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr2:37570700-37570850	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr2:37570720-37570870	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr2:37570680-37570830	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr2:37570640-37570790	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr2:37570680-37570830	AG10803	skin:	n/a	n/a
49	MYC	chr2:37570730-37570851	NB4	blood:	n/a	n/a
50	CTCF	chr2:37570700-37570850	MCF-7	breast:	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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12468307	0.82[ASN][1000 genomes]
rs12469082	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12472984	0.80[ASN][1000 genomes]
rs13027919	0.86[ASN][1000 genomes]
rs2241163	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2255991	0.80[ASN][1000 genomes]
rs2268988	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2300883	0.83[AMR][1000 genomes]
rs2300891	0.82[AMR][1000 genomes]
rs28384455	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3755192	0.98[ASN][1000 genomes]
rs4610034	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4670196	0.82[EUR][1000 genomes]
rs57861177	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60981509	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73927424	0.81[EUR][1000 genomes]
rs7593932	0.87[ASN][1000 genomes]
rs952711	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs952712	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][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:42 , 50 per page) page: 1

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	chr2:37569800-37570800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:37569800-37571200	Enhancers	Fetal Lung	lung
7	chr2:37569800-37571400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:37569800-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:37569800-37571400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:37569800-37571600	Enhancers	Left Ventricle	heart
11	chr2:37570000-37570800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:37570000-37571200	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:37570000-37571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:37570000-37571400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:37570000-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:37570000-37571400	Enhancers	HUVEC	blood vessel
17	chr2:37570000-37571400	Enhancers	NH-A	brain
18	chr2:37570200-37571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:37570200-37571000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:37570200-37571000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:37570200-37571000	Weak transcription	HSMMtube	muscle
22	chr2:37570200-37571400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:37570200-37571400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:37570200-37571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:37570200-37571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:37570200-37571600	Weak transcription	Spleen	Spleen
27	chr2:37570400-37570800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:37570400-37571400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:37570400-37571400	Enhancers	Osteobl	bone
30	chr2:37570400-37571600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:37570400-37571600	Enhancers	HMEC	breast
32	chr2:37570600-37571200	Enhancers	Primary T cells from cord blood	blood
33	chr2:37570600-37571200	Bivalent Enhancer	HepG2	liver
34	chr2:37570600-37571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:37570600-37571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:37570600-37571400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:37570600-37571400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:37570600-37571400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:37570600-37571400	Enhancers	NHEK	skin
40	chr2:37570600-37571600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:37570600-37571600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr2:37570600-37571800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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