Variant report

Variant	rs11886145
Chromosome Location	chr2:36825716-36825717
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr2:36824509-36825876	K562	blood:	n/a	chr2:36825356-36825370 chr2:36824894-36824908
2	SIN3A	chr2:36824257-36825822	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr2:36823795-36826003	SK-N-SH	brain:	n/a	n/a
4	BHLHE40	chr2:36825561-36825915	HepG2	liver:	n/a	n/a
5	EP300	chr2:36825396-36825863	K562	blood:	n/a	n/a
6	POLR2A	chr2:36823766-36825979	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:36825346-36825724	U87	brain:	n/a	n/a
8	BHLHE40	chr2:36825391-36825804	K562	blood:	n/a	n/a
9	MAZ	chr2:36824455-36825726	K562	blood:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
10	GATA2	chr2:36825370-36825845	HUVEC	blood vessel:	n/a	chr2:36825598-36825605
11	POLR2A	chr2:36823830-36825766	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:36824021-36825773	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36825704-36825754	HCT-116	colon:	n/a
2	chr2:36825704-36825754	RPTEC	kidney:	n/a
3	chr2:36825704-36825754	MCF10A-Er-Src	breast:	n/a
4	chr2:36825704-36825754	HUVEC	blood vessel:	n/a
5	chr2:36825704-36825754	HIPEpiC	eye:	n/a
6	chr2:36825704-36825754	HRE	kidney:	n/a
7	chr2:36825704-36825754	GM19239	blood:	n/a
8	chr2:36825704-36825754	AG04450	lung:	fetal
9	chr2:36825704-36825754	CMK	blood:	n/a
10	chr2:36825704-36825754	SAEC	small airway:	n/a
11	chr2:36825704-36825754	Hela-S3	cervix:	n/a
12	chr2:36825704-36825754	K562	blood:	n/a
13	chr2:36825704-36825754	HRCEpiC	kidney:	n/a
14	chr2:36825704-36825754	AG09319	gingival:	n/a
15	chr2:36825704-36825754	NH-A	brain:	n/a
16	chr2:36825704-36825754	T-47D	breast:	n/a
17	chr2:36825704-36825754	SKMC	muscle:	n/a
18	chr2:36825704-36825754	MCF-7	breast:	n/a
19	chr2:36825704-36825754	H1-hESC	embryonic stem cell:	embryo
20	chr2:36825704-36825754	GM12878	blood:	n/a
21	chr2:36825704-36825754	GM06990	blood:	n/a
22	chr2:36825704-36825754	SK-N-SH_RA	brain:	n/a
23	chr2:36825704-36825754	AG09309	skin:	n/a
24	chr2:36825704-36825754	NB4	blood:	n/a
25	chr2:36825704-36825754	HCPEpiC	choroid plexus:	n/a
26	chr2:36825704-36825754	HRPEpiC	eye:	n/a
27	chr2:36825704-36825754	HCF	heart:	n/a
28	chr2:36825704-36825754	PFSK-1	brain:	n/a
29	chr2:36825704-36825754	SK-N-SH	brain:	n/a
30	chr2:36825704-36825754	BE2_C	brain:	n/a
31	chr2:36825704-36825754	GM12891	blood:	n/a
32	chr2:36825704-36825754	HMEC	breast:	n/a
33	chr2:36825704-36825754	AG04449	skin:	fetal
34	chr2:36825704-36825754	NT2-D1	testis:	n/a
35	chr2:36825704-36825754	GM12892	blood:	n/a
36	chr2:36825704-36825754	PANC-1	pancreas:	n/a
37	chr2:36825704-36825754	HNPCEpiC	eye:	n/a
38	chr2:36825704-36825754	A549	lung:	n/a
39	chr2:36825704-36825754	HCM	heart:	n/a
40	chr2:36825704-36825754	ECC-1	luminal epithelium:	n/a
41	chr2:36825704-36825754	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:36825704-36825754	AG10803	skin:	n/a
43	chr2:36825704-36825754	HAEpiC	amniotic membrane:	n/a
44	chr2:36825704-36825754	NHDF-neo	bronchial:	n/a
45	chr2:36825704-36825754	HEK293	kidney:	embryo
46	chr2:36825704-36825754	U87	brain:	n/a
47	chr2:36825704-36825754	ProgFib	skin:	n/a
48	chr2:36825704-36825754	Caco-2	colon:	n/a
49	chr2:36825704-36825754	SK-N-MC	brain:	n/a
50	chr2:36825704-36825754	Hepatocyte	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36807436..36809716-chr2:36825542..36828230,2	K562	blood:
2	chr2:36825393..36826238-chr3:170587410..170588332,2	HCT-116	colon:
3	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
4	chr2:36824869..36825813-chr7:25164272..25164970,2	Hela-S3	cervix:
5	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

No data

Variant related genes	Relation type
FEZ2	TF binding region
FEZ2	CpG island
ENSG00000163584	Chromatin interaction
ENSG00000256845	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11545205	0.83[EUR][1000 genomes]
rs11894187	0.85[ASN][1000 genomes]
rs11899523	0.95[ASN][1000 genomes]
rs13013664	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276671	0.81[ASN][1000 genomes]
rs3770793	0.91[ASN][1000 genomes]
rs3770796	0.93[ASN][1000 genomes]
rs3821150	0.94[ASN][1000 genomes]
rs6729495	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560321	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7570763	0.95[ASN][1000 genomes]
rs848596	0.80[ASN][1000 genomes]
rs848610	0.83[ASN][1000 genomes]
rs848619	0.85[ASN][1000 genomes]
rs848622	0.80[ASN][1000 genomes]
rs848623	0.80[ASN][1000 genomes]
rs848624	0.85[ASN][1000 genomes]
rs848630	0.85[ASN][1000 genomes]
rs848631	0.82[ASN][1000 genomes]
rs848635	0.80[ASN][1000 genomes]
rs848636	0.82[ASN][1000 genomes]
rs848638	0.83[ASN][1000 genomes]
rs848639	0.83[ASN][1000 genomes]
rs848640	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv2681	chr2:36822990-36848171	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3339525	chr2:36824073-36826621	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3342085	chr2:36824398-36826396	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36823400-36825800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:36824000-36825800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:36824400-36825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:36824400-36825800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:36824400-36825800	Active TSS	Aorta	Aorta
6	chr2:36824400-36825800	Active TSS	Fetal Muscle Trunk	muscle
7	chr2:36824400-36825800	Active TSS	Gastric	stomach
8	chr2:36824400-36826000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:36824400-36826000	Active TSS	Brain Angular Gyrus	brain
10	chr2:36824600-36825800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:36824600-36825800	Active TSS	Primary T cells from cord blood	blood
12	chr2:36824600-36825800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:36824600-36825800	Active TSS	Brain Cingulate Gyrus	brain
14	chr2:36824600-36825800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr2:36824600-36825800	Active TSS	Thymus	Thymus
16	chr2:36824600-36826000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:36824600-36826000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:36824800-36825800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:36824800-36825800	Active TSS	Right Ventricle	heart
20	chr2:36825200-36825800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:36825200-36825800	Enhancers	Fetal Heart	heart
22	chr2:36825200-36826000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:36825400-36825800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:36825400-36825800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:36825400-36825800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr2:36825400-36825800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:36825400-36825800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:36825400-36825800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:36825400-36825800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr2:36825400-36825800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:36825400-36825800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:36825400-36825800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:36825400-36825800	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:36825400-36825800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:36825400-36825800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:36825400-36825800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:36825400-36825800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:36825400-36825800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:36825400-36825800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:36825400-36825800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr2:36825400-36825800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr2:36825400-36825800	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr2:36825400-36825800	Flanking Active TSS	Fetal Kidney	kidney
44	chr2:36825400-36825800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr2:36825400-36825800	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr2:36825400-36825800	Active TSS	Right Atrium	heart
47	chr2:36825400-36825800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:36825400-36825800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:36825400-36825800	Enhancers	Small Intestine	intestine
50	chr2:36825400-36825800	Flanking Active TSS	Dnd41	blood

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