Variant report

Variant	rs1837368
Chromosome Location	chr2:111874508-111874509
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	chr2:111874497-111874982	HepG2	liver:	n/a	chr2:111874765-111874779 chr2:111874764-111874783 chr2:111874715-111874722
2	CTCF	chr2:111873049-111875558	A549	lung:	n/a	chr2:111875132-111875153 chr2:111874765-111874786 chr2:111875130-111875148 chr2:111873712-111873728 chr2:111875135-111875143
3	TEAD4	chr2:111874448-111875023	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFIC	chr2:111874308-111876064	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr2:111874459-111875060	MCF-7	breast:	n/a	chr2:111874765-111874786
6	SMARCB1	chr2:111874466-111876366	Hela-S3	cervix:	n/a	n/a
7	MAX	chr2:111874351-111875744	MCF-7	breast:	n/a	n/a
8	SMC3	chr2:111874401-111875372	SK-N-SH	brain:	n/a	chr2:111874765-111874779
9	CTCF	chr2:111874490-111874992	H1-hESC	embryonic stem cell:	n/a	chr2:111874765-111874786
10	RCOR1	chr2:111874425-111874987	HepG2	liver:	n/a	n/a
11	ZEB1	chr2:111874428-111874923	GM12878	blood:	n/a	chr2:111874722-111874733
12	CTCF	chr2:111874453-111875114	HCT-116	colon:	n/a	chr2:111874765-111874786
13	CTCF	chr2:111874460-111874538	GM19240	blood:	n/a	n/a
14	FOXM1	chr2:111874464-111875032	MCF-7	breast:	n/a	n/a
15	ZNF263	chr2:111874495-111875425	HEK293-T-REx	kidney:	n/a	chr2:111874852-111874873 chr2:111874814-111874835
16	ZNF143	chr2:111874417-111875277	Hela-S3	cervix:	n/a	n/a
17	SIN3A	chr2:111874494-111875365	H1-hESC	embryonic stem cell:	n/a	chr2:111874528-111874542
18	TBL1XR1	chr2:111873466-111875169	GM12878	blood:	n/a	n/a
19	MXI1	chr2:111873483-111874911	GM12878	blood:	n/a	n/a
20	GATA3	chr2:111874317-111875545	MCF-7	breast:	n/a	n/a
21	MAX	chr2:111874469-111876165	HCT-116	colon:	n/a	n/a
22	CTCF	chr2:111874348-111875058	IMR90	lung:	n/a	chr2:111874765-111874786
23	SMC3	chr2:111873459-111875292	GM12878	blood:	n/a	chr2:111874765-111874779
24	RAD21	chr2:111874402-111875268	H1-hESC	embryonic stem cell:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
25	CTCF	chr2:111874442-111874933	GM19238	blood:	n/a	chr2:111874765-111874786
26	IKZF1	chr2:111873367-111874812	GM12878	blood:	n/a	n/a
27	CTCF	chr2:111873338-111875311	GM12878	blood:	n/a	chr2:111875132-111875153 chr2:111874765-111874786 chr2:111875130-111875148 chr2:111873712-111873728 chr2:111875135-111875143
28	RAD21	chr2:111873500-111875165	GM12878	blood:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
29	SIN3AK20	chr2:111874342-111875641	MCF-7	breast:	n/a	n/a
30	YY1	chr2:111874481-111875018	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELK1	chr2:111874471-111874883	GM12878	blood:	n/a	n/a
32	RAD21	chr2:111874336-111876061	HCT-116	colon:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
33	MBD4	chr2:111874487-111875018	HepG2	liver:	n/a	n/a
34	EGR1	chr2:111874479-111874955	MCF-7	breast:	n/a	n/a
35	ELF1	chr2:111874495-111874993	GM12878	blood:	n/a	chr2:111874738-111874751
36	GATA3	chr2:111874482-111875525	MCF-7	breast:	n/a	n/a
37	CHD1	chr2:111874493-111874928	GM12878	blood:	n/a	n/a
38	RAD21	chr2:111874337-111875261	MCF-7	breast:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
39	CTCF	chr2:111874218-111875224	SK-N-SH	brain:	n/a	chr2:111875132-111875153 chr2:111874765-111874786 chr2:111875130-111875148 chr2:111875135-111875143
40	RAD21	chr2:111874397-111875102	MCF-7	breast:	n/a	chr2:111874765-111874779 chr2:111874764-111874783 chr2:111874715-111874722
41	EP300	chr2:111873445-111874964	GM12878	blood:	n/a	n/a
42	RAD21	chr2:111874397-111875315	A549	lung:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
43	ELF1	chr2:111874410-111875049	MCF-7	breast:	n/a	chr2:111874738-111874751
44	CTCF	chr2:111874487-111874995	A549	lung:	n/a	chr2:111874765-111874786
45	ELF1	chr2:111874429-111874986	HepG2	liver:	n/a	chr2:111874738-111874751
46	CTCF	chr2:111874476-111874553	GM19239	blood:	n/a	n/a
47	TCF12	chr2:111874492-111875028	ECC-1	luminal epithelium:	n/a	n/a
48	TCF7L2	chr2:111874447-111876104	Hela-S3	cervix:	n/a	n/a
49	MAX	chr2:111874449-111876247	HCT-116	colon:	n/a	n/a
50	RAD21	chr2:111874304-111876216	HCT-116	colon:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111874495-111874545	HRE	kidney:	n/a
2	chr2:111874495-111874545	HEEpiC	esophagus:	n/a
3	chr2:111874495-111874545	K562	blood:	n/a
4	chr2:111874495-111874545	AoSMC	blood vessel:	n/a
5	chr2:111874495-111874545	H1-hESC	embryonic stem cell:	embryo
6	chr2:111874495-111874545	Jurkat	blood:	n/a
7	chr2:111874495-111874545	Hepatocyte	liver:	n/a
8	chr2:111874495-111874545	BE2_C	brain:	n/a
9	chr2:111874495-111874545	NT2-D1	testis:	n/a
10	chr2:111874495-111874545	HRPEpiC	eye:	n/a
11	chr2:111874495-111874545	NHDF-neo	bronchial:	n/a
12	chr2:111874495-111874545	NHBE	bronchial:	n/a
13	chr2:111874495-111874545	GM12878	blood:	n/a
14	chr2:111874495-111874545	HEK293	kidney:	embryo
15	chr2:111874495-111874545	A549	lung:	n/a
16	chr2:111874495-111874545	HCT-116	colon:	n/a
17	chr2:111874495-111874545	AG10803	skin:	n/a
18	chr2:111874495-111874545	U87	brain:	n/a
19	chr2:111874495-111874545	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:111874495-111874545	HL-60	blood:	n/a
21	chr2:111874495-111874545	AG09319	gingival:	n/a
22	chr2:111874495-111874545	HRCEpiC	kidney:	n/a
23	chr2:111874495-111874545	CMK	blood:	n/a
24	chr2:111874495-111874545	PFSK-1	brain:	n/a
25	chr2:111874495-111874545	AG09309	skin:	n/a
26	chr2:111874495-111874545	ECC-1	luminal epithelium:	n/a
27	chr2:111874495-111874545	HCM	heart:	n/a
28	chr2:111874495-111874545	SKMC	muscle:	n/a
29	chr2:111874495-111874545	HCPEpiC	choroid plexus:	n/a
30	chr2:111874495-111874545	T-47D	breast:	n/a
31	chr2:111874495-111874545	Hela-S3	cervix:	n/a
32	chr2:111874495-111874545	HNPCEpiC	eye:	n/a
33	chr2:111874495-111874545	HIPEpiC	eye:	n/a
34	chr2:111874495-111874545	SAEC	small airway:	n/a
35	chr2:111874495-111874545	SK-N-SH	brain:	n/a
36	chr2:111874495-111874545	ProgFib	skin:	n/a
37	chr2:111874495-111874545	ovcar-3	ovarian:	n/a
38	chr2:111874495-111874545	GM06990	blood:	n/a
39	chr2:111874495-111874545	AG04450	lung:	fetal
40	chr2:111874495-111874545	HUVEC	blood vessel:	n/a
41	chr2:111874495-111874545	PANC-1	pancreas:	n/a
42	chr2:111874495-111874545	SK-N-MC	brain:	n/a
43	chr2:111874495-111874545	RPTEC	kidney:	n/a
44	chr2:111874495-111874545	HMEC	breast:	n/a
45	chr2:111874495-111874545	IMR90	lung:	fetal
46	chr2:111874495-111874545	HCF	heart:	n/a
47	chr2:111874495-111874545	NB4	blood:	n/a
48	chr2:111874495-111874545	GM12891	blood:	n/a
49	chr2:111874495-111874545	GM12892	blood:	n/a
50	chr2:111874495-111874545	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111807803..111810295-chr2:111873286..111875323,2	MCF-7	breast:
2	chr2:111786376..111787035-chr2:111873340..111875017,8	MCF-7	breast:
3	chr2:111611685..111612458-chr2:111874292..111875234,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204581	TF binding region
BCL2L11	TF binding region
ENSG00000204581	CpG island
BCL2L11	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10189015	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10211562	0.82[ASN][1000 genomes]
rs1054873	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674517	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1439287	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821968	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1837366	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837367	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837369	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241841	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241842	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241844	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789061	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3789064	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789065	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3789068	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4302219	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4627572	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849402	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56952027	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60286362	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6708784	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6734942	0.87[ASN][1000 genomes]
rs7577824	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593638	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7602904	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111860200-111875000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:111869000-111874600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:111874000-111874800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr2:111874000-111874800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:111874000-111874800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr2:111874000-111874800	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr2:111874400-111874600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:111874400-111874600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:111874400-111874600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr2:111874400-111874600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:111874400-111874600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr2:111874400-111874600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr2:111874400-111874600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:111874400-111874600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:111874400-111874600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr2:111874400-111874600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:111874400-111874600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:111874400-111874600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:111874400-111874600	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr2:111874400-111874600	Enhancers	Brain Hippocampus Middle	brain
21	chr2:111874400-111874600	Bivalent Enhancer	Brain Substantia Nigra	brain
22	chr2:111874400-111874600	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr2:111874400-111874600	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:111874400-111874600	Enhancers	Pancreas	Pancrea
25	chr2:111874400-111874600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
26	chr2:111874400-111874600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
27	chr2:111874400-111874600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:111874400-111874600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr2:111874400-111874600	Enhancers	Hela-S3	cervix
30	chr2:111874400-111874600	Enhancers	HMEC	breast
31	chr2:111874400-111874600	Enhancers	HSMM	muscle
32	chr2:111874400-111874600	Enhancers	HSMMtube	muscle
33	chr2:111874400-111874600	Enhancers	NHEK	skin
34	chr2:111874400-111874800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr2:111874400-111874800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr2:111874400-111874800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:111874400-111874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:111874400-111874800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:111874400-111874800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr2:111874400-111874800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr2:111874400-111874800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr2:111874400-111874800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr2:111874400-111874800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:111874400-111874800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr2:111874400-111874800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:111874400-111874800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
47	chr2:111874400-111874800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:111874400-111874800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr2:111874400-111874800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:111874400-111874800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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