Variant report

Variant	rs2703036
Chromosome Location	chr12:45270858-45270859
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	ZNF143	chr12:45270119-45270966	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr12:45270451-45271013	GM12878	blood:	n/a	chr12:45270531-45270544 chr12:45270779-45270788
3	SIN3AK20	chr12:45270175-45270890	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr12:45270485-45270881	PANC-1	pancreas:	n/a	chr12:45270531-45270544 chr12:45270779-45270788
5	CTCF	chr12:45270465-45270869	MCF-7	breast:	n/a	chr12:45270691-45270704
6	SRF	chr12:45270160-45271090	ECC-1	luminal epithelium:	n/a	chr12:45270193-45270203
7	REST	chr12:45270565-45271013	SK-N-SH	brain:	n/a	chr12:45270779-45270788
8	REST	chr12:45270549-45270899	PANC-1	pancreas:	n/a	chr12:45270779-45270788
9	MAX	chr12:45270100-45270900	A549	lung:	n/a	n/a
10	REST	chr12:45270134-45271334	ECC-1	luminal epithelium:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
11	REST	chr12:45270568-45270934	SK-N-SH	brain:	n/a	chr12:45270779-45270788
12	REST	chr12:45270217-45271159	A549	lung:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
13	RAD21	chr12:45270337-45271020	H1-hESC	embryonic stem cell:	n/a	chr12:45270798-45270808 chr12:45270534-45270547 chr12:45270766-45270780
14	CTCF	chr12:45270511-45270919	H1-hESC	embryonic stem cell:	n/a	chr12:45270691-45270704
15	REST	chr12:45270532-45271027	HL-60	blood:	n/a	chr12:45270779-45270788
16	REST	chr12:45270152-45271156	MCF-7	breast:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
17	REST	chr12:45270472-45271139	HL-60	blood:	n/a	chr12:45270531-45270544 chr12:45270779-45270788
18	REST	chr12:45270086-45271156	PFSK-1	brain:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
19	ZBTB7A	chr12:45269031-45271159	ECC-1	luminal epithelium:	n/a	chr12:45270797-45270806 chr12:45269905-45269913
20	REST	chr12:45270309-45271229	MCF-7	breast:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
21	ZBTB7A	chr12:45268901-45271105	ECC-1	luminal epithelium:	n/a	chr12:45270797-45270806 chr12:45269905-45269913
22	REST	chr12:45270565-45270896	GM12878	blood:	n/a	chr12:45270779-45270788
23	CTBP2	chr12:45270203-45270964	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr12:45270055-45271045	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr12:45268594-45271198	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr12:45270760-45270910	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr12:45270800-45270950	GM06990	blood:	n/a	n/a
28	SRF	chr12:45270232-45271096	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr12:45270701-45270881	SK-N-SH_RA	brain:	n/a	n/a
30	TCF12	chr12:45269830-45271017	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr12:45270099-45270972	MCF-7	breast:	n/a	n/a
32	REST	chr12:45269036-45271162	H1-neurons	neurons:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
33	REST	chr12:45270594-45270934	PANC-1	pancreas:	n/a	chr12:45270779-45270788
34	ZBTB7A	chr12:45270658-45270894	K562	blood:	n/a	chr12:45270797-45270806
35	REST	chr12:45270505-45271039	U87	brain:	n/a	chr12:45270531-45270544 chr12:45270779-45270788
36	REST	chr12:45270382-45270995	PFSK-1	brain:	n/a	chr12:45270531-45270544 chr12:45270779-45270788
37	REST	chr12:45270647-45270887	GM12878	blood:	n/a	chr12:45270779-45270788
38	MXI1	chr12:45270278-45270968	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr12:45270631-45270879	HepG2	liver:	n/a	chr12:45270779-45270788
40	REST	chr12:45270491-45271156	PANC-1	pancreas:	n/a	chr12:45270531-45270544 chr12:45270779-45270788
41	CTCF	chr12:45270730-45270903	Medullo	brain:	n/a	n/a
42	NFIC	chr12:45270039-45271076	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr12:45270351-45271142	H1-hESC	embryonic stem cell:	n/a	chr12:45270531-45270544 chr12:45270779-45270788 chr12:45270351-45270365
44	YY1	chr12:45269812-45270884	ECC-1	luminal epithelium:	n/a	chr12:45270062-45270071 chr12:45269889-45269903 chr12:45269887-45269898 chr12:45269886-45269900
45	REST	chr12:45270680-45270900	K562	blood:	n/a	chr12:45270779-45270788
46	REST	chr12:45270552-45270977	A549	lung:	n/a	chr12:45270779-45270788
47	TEAD4	chr12:45270487-45271115	A549	lung:	n/a	n/a
48	MAX	chr12:45269268-45271034	ECC-1	luminal epithelium:	n/a	n/a
49	REST	chr12:45270543-45270879	SK-N-SH	brain:	n/a	chr12:45270779-45270788
50	E2F6	chr12:45270055-45270946	H1-hESC	embryonic stem cell:	n/a	chr12:45270059-45270071 chr12:45270062-45270071 chr12:45270796-45270805

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:45270828-45270878	SKMC	muscle:	n/a
2	chr12:45270834-45270884	IMR90	lung:	fetal
3	chr12:45270818-45270868	HRPEpiC	eye:	n/a
4	chr12:45270834-45270884	HRPEpiC	eye:	n/a
5	chr12:45270834-45270884	Caco-2	colon:	n/a
6	chr12:45270818-45270868	AG09309	skin:	n/a
7	chr12:45270834-45270884	PrEC	prostate:	n/a
8	chr12:45270834-45270884	LNCaP	prostate:	n/a
9	chr12:45270818-45270868	Hepatocyte	liver:	n/a
10	chr12:45270818-45270868	PANC-1	pancreas:	n/a
11	chr12:45270818-45270868	HepG2	liver:	n/a
12	chr12:45270834-45270884	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:45270834-45270884	BJ	skin:	n/a
14	chr12:45270834-45270884	MCF-7	breast:	n/a
15	chr12:45270834-45270884	A549	lung:	n/a
16	chr12:45270834-45270884	PFSK-1	brain:	n/a
17	chr12:45270818-45270868	BE2_C	brain:	n/a
18	chr12:45270828-45270878	GM12878	blood:	n/a
19	chr12:45270828-45270878	Hepatocyte	liver:	n/a
20	chr12:45270828-45270878	BE2_C	brain:	n/a
21	chr12:45270818-45270868	HCPEpiC	choroid plexus:	n/a
22	chr12:45270818-45270868	BJ	skin:	n/a
23	chr12:45270818-45270868	SAEC	small airway:	n/a
24	chr12:45270828-45270878	GM06990	blood:	n/a
25	chr12:45270818-45270868	AG04450	lung:	fetal
26	chr12:45270834-45270884	GM12878	blood:	n/a
27	chr12:45270834-45270884	HEK293	kidney:	embryo
28	chr12:45270834-45270884	AG04449	skin:	fetal
29	chr12:45270834-45270884	GM19239	blood:	n/a
30	chr12:45270828-45270878	H1-hESC	embryonic stem cell:	embryo
31	chr12:45270828-45270878	LNCaP	prostate:	n/a
32	chr12:45270818-45270868	HMEC	breast:	n/a
33	chr12:45270828-45270878	AG09319	gingival:	n/a
34	chr12:45270828-45270878	AoSMC	blood vessel:	n/a
35	chr12:45270818-45270868	HUVEC	blood vessel:	n/a
36	chr12:45270834-45270884	CMK	blood:	n/a
37	chr12:45270818-45270868	SKMC	muscle:	n/a
38	chr12:45270828-45270878	HL-60	blood:	n/a
39	chr12:45270828-45270878	Hela-S3	cervix:	n/a
40	chr12:45270818-45270868	HEK293	kidney:	embryo
41	chr12:45270818-45270868	K562	blood:	n/a
42	chr12:45270834-45270884	ECC-1	luminal epithelium:	n/a
43	chr12:45270834-45270884	ProgFib	skin:	n/a
44	chr12:45270818-45270868	ECC-1	luminal epithelium:	n/a
45	chr12:45270834-45270884	HAEpiC	amniotic membrane:	n/a
46	chr12:45270828-45270878	RPTEC	kidney:	n/a
47	chr12:45270818-45270868	AG04449	skin:	fetal
48	chr12:45270834-45270884	U87	brain:	n/a
49	chr12:45270828-45270878	ovcar-3	ovarian:	n/a
50	chr12:45270818-45270868	IMR90	lung:	fetal

Variant related genes	Relation type
NELL2	TF binding region
NELL2	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2658976	1.00[YRI][hapmap]
rs2658991	1.00[AMR][1000 genomes]
rs268027	1.00[ASW][hapmap]
rs268033	1.00[AMR][1000 genomes]
rs268038	1.00[AMR][1000 genomes]
rs2703044	1.00[AMR][1000 genomes]
rs2703059	0.87[YRI][hapmap]
rs2710418	1.00[YRI][hapmap]
rs2710427	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58109917	1.00[AMR][1000 genomes]
rs58840891	1.00[AMR][1000 genomes]
rs73275512	1.00[AMR][1000 genomes]
rs73275524	1.00[AMR][1000 genomes]
rs73275531	1.00[AMR][1000 genomes]
rs73275551	1.00[AMR][1000 genomes]
rs73275596	1.00[AMR][1000 genomes]
rs73277300	1.00[AMR][1000 genomes]
rs73279134	1.00[AMR][1000 genomes]
rs73279144	1.00[AMR][1000 genomes]
rs73279145	1.00[AMR][1000 genomes]
rs73279158	1.00[AMR][1000 genomes]
rs73279176	1.00[AMR][1000 genomes]
rs73281008	1.00[AMR][1000 genomes]
rs73281095	1.00[AMR][1000 genomes]
rs73281098	1.00[AMR][1000 genomes]
rs73283039	1.00[AMR][1000 genomes]
rs73287011	1.00[AMR][1000 genomes]
rs73288970	1.00[AMR][1000 genomes]
rs73288973	1.00[AMR][1000 genomes]
rs73288975	1.00[AMR][1000 genomes]
rs73288980	1.00[AMR][1000 genomes]
rs73288988	1.00[AMR][1000 genomes]
rs73288990	1.00[AMR][1000 genomes]
rs73288993	1.00[AMR][1000 genomes]
rs73290682	1.00[AMR][1000 genomes]
rs73290685	1.00[AMR][1000 genomes]
rs73290688	1.00[AMR][1000 genomes]
rs73290690	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	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
2	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45264800-45271200	Active TSS	Fetal Brain Male	brain
2	chr12:45267200-45271000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45267200-45271400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:45267800-45271000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr12:45268000-45271000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:45268000-45271200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:45268200-45271200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:45268600-45271000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:45268600-45271200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:45268800-45271000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:45268800-45271000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr12:45268800-45271200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:45268800-45271200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:45268800-45271200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:45269000-45271000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:45269000-45271000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:45269000-45271000	Active TSS	Aorta	Aorta
18	chr12:45269000-45271000	Active TSS	Brain Angular Gyrus	brain
19	chr12:45269200-45271000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:45269200-45271000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:45269200-45271000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr12:45269200-45271000	Bivalent/Poised TSS	HSMMtube	muscle
23	chr12:45269400-45271000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:45269400-45271200	Active TSS	Fetal Kidney	kidney
25	chr12:45269400-45271400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:45269600-45271000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:45269600-45271000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:45269600-45271000	Active TSS	Brain Substantia Nigra	brain
29	chr12:45269600-45271200	Active TSS	Brain Anterior Caudate	brain
30	chr12:45269600-45271200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:45269800-45271200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:45269800-45271200	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:45270000-45271000	Bivalent/Poised TSS	Osteobl	bone
34	chr12:45270000-45271200	Active TSS	Fetal Brain Female	brain
35	chr12:45270200-45271000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr12:45270200-45271000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:45270200-45271000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr12:45270200-45271000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr12:45270200-45271000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr12:45270200-45271000	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr12:45270200-45271200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr12:45270400-45271000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:45270400-45271000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:45270400-45271000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr12:45270400-45271000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr12:45270400-45271000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:45270400-45271000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:45270400-45271000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:45270400-45271000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:45270400-45271000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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