Variant report

Variant	rs2278718
Chromosome Location	chr2:63815801-63815802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:561)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr2:63815314-63816322	GM12878	blood:	n/a	n/a
2	ZNF143	chr2:63815272-63816611	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr2:63815223-63816937	K562	blood:	n/a	n/a
4	POLR2A	chr2:63815629-63815929	A549	lung:	n/a	n/a
5	FOSL2	chr2:63815664-63816264	A549	lung:	n/a	n/a
6	POLR2A	chr2:63815630-63816523	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:63815063-63816553	GM19193	blood:	n/a	n/a
8	SP1	chr2:63815768-63816169	K562	blood:	n/a	n/a
9	ELF1	chr2:63815244-63816600	HCT-116	colon:	n/a	n/a
10	POLR2A	chr2:63815474-63816439	K562	blood:	n/a	n/a
11	SIN3AK20	chr2:63815261-63816318	K562	blood:	n/a	n/a
12	FOXP2	chr2:63815652-63816365	PFSK-1	brain:	n/a	n/a
13	IRF1	chr2:63815530-63816828	K562	blood:	n/a	n/a
14	NRF1	chr2:63815379-63816451	GM12878	blood:	n/a	n/a
15	NFYA	chr2:63815724-63816158	GM12878	blood:	n/a	n/a
16	STAT3	chr2:63815571-63816137	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr2:63815298-63816600	K562	blood:	n/a	n/a
18	MAX	chr2:63815201-63816356	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR2C2	chr2:63815203-63816548	Hela-S3	cervix:	n/a	chr2:63815660-63815669
20	TAF1	chr2:63815195-63816401	GM12878	blood:	n/a	n/a
21	MAZ	chr2:63815240-63816603	K562	blood:	n/a	n/a
22	POLR2A	chr2:63815114-63816636	GM12892	blood:	n/a	n/a
23	MAFF	chr2:63815664-63816192	HepG2	liver:	n/a	n/a
24	ELK1	chr2:63815515-63816273	GM12878	blood:	n/a	n/a
25	RCOR1	chr2:63815412-63816584	K562	blood:	n/a	n/a
26	ETS1	chr2:63815244-63816363	K562	blood:	n/a	n/a
27	POLR2A	chr2:63815467-63816602	HCT-116	colon:	n/a	n/a
28	HEY1	chr2:63815553-63816585	K562	blood:	n/a	n/a
29	E2F6	chr2:63815236-63816430	A549	lung:	n/a	chr2:63815802-63815813
30	ATF2	chr2:63815451-63816182	GM12878	blood:	n/a	n/a
31	PML	chr2:63815482-63816767	K562	blood:	n/a	n/a
32	TCF7L2	chr2:63815258-63816337	PANC-1	pancreas:	n/a	n/a
33	ZNF263	chr2:63815286-63817016	HEK293-T-REx	kidney:	n/a	n/a
34	TCF12	chr2:63815309-63816435	ECC-1	luminal epithelium:	n/a	n/a
35	GABPA	chr2:63814993-63816607	HL-60	blood:	n/a	n/a
36	GABPA	chr2:63815110-63816396	K562	blood:	n/a	n/a
37	HDAC2	chr2:63815118-63816322	HepG2	liver:	n/a	n/a
38	EP300	chr2:63815329-63816532	HepG2	liver:	n/a	n/a
39	SP1	chr2:63815364-63816312	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:63814866-63817603	GM12878	blood:	n/a	n/a
41	YY1	chr2:63815600-63816165	A549	lung:	n/a	n/a
42	TBP	chr2:63815300-63816974	HepG2	liver:	n/a	n/a
43	REST	chr2:63815251-63817164	H1-neurons	neurons:	n/a	chr2:63816265-63816278 chr2:63816277-63816286 chr2:63816415-63816428
44	SIN3AK20	chr2:63815388-63816342	HepG2	liver:	n/a	n/a
45	RFX5	chr2:63815220-63816963	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr2:63815628-63816519	HepG2	liver:	n/a	n/a
47	EBF1	chr2:63815564-63815921	GM12878	blood:	n/a	chr2:63815713-63815724
48	TAF1	chr2:63815590-63816435	H1-neurons	neurons:	n/a	n/a
49	REST	chr2:63815548-63816558	HepG2	liver:	n/a	chr2:63816265-63816278 chr2:63816277-63816286 chr2:63816415-63816428
50	TBP	chr2:63815526-63816961	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:63815760-63815810	HRE	kidney:	n/a
2	chr2:63815760-63815810	GM12892	blood:	n/a
3	chr2:63815760-63815810	ProgFib	skin:	n/a
4	chr2:63815760-63815810	PANC-1	pancreas:	n/a
5	chr2:63815760-63815810	AoSMC	blood vessel:	n/a
6	chr2:63815760-63815810	HepG2	liver:	n/a
7	chr2:63815760-63815810	HCM	heart:	n/a
8	chr2:63815760-63815810	HEK293	kidney:	embryo
9	chr2:63815760-63815810	Hela-S3	cervix:	n/a
10	chr2:63815760-63815810	AG04450	lung:	fetal
11	chr2:63815760-63815810	HCPEpiC	choroid plexus:	n/a
12	chr2:63815760-63815810	ECC-1	luminal epithelium:	n/a
13	chr2:63815760-63815810	RPTEC	kidney:	n/a
14	chr2:63815760-63815810	HEEpiC	esophagus:	n/a
15	chr2:63815760-63815810	BE2_C	brain:	n/a
16	chr2:63815760-63815810	ovcar-3	ovarian:	n/a
17	chr2:63815760-63815810	GM06990	blood:	n/a
18	chr2:63815760-63815810	IMR90	lung:	fetal
19	chr2:63815760-63815810	AG09309	skin:	n/a
20	chr2:63815760-63815810	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:63815760-63815810	GM12878	blood:	n/a
22	chr2:63815760-63815810	SK-N-SH_RA	brain:	n/a
23	chr2:63815760-63815810	SAEC	small airway:	n/a
24	chr2:63815760-63815810	GM19239	blood:	n/a
25	chr2:63815760-63815810	NH-A	brain:	n/a
26	chr2:63815760-63815810	LNCaP	prostate:	n/a
27	chr2:63815760-63815810	K562	blood:	n/a
28	chr2:63815760-63815810	CMK	blood:	n/a
29	chr2:63815760-63815810	HAEpiC	amniotic membrane:	n/a
30	chr2:63815760-63815810	PFSK-1	brain:	n/a
31	chr2:63815760-63815810	HMEC	breast:	n/a
32	chr2:63815760-63815810	H1-hESC	embryonic stem cell:	embryo
33	chr2:63815760-63815810	Caco-2	colon:	n/a
34	chr2:63815760-63815810	A549	lung:	n/a
35	chr2:63815760-63815810	U87	brain:	n/a
36	chr2:63815760-63815810	HRPEpiC	eye:	n/a
37	chr2:63815760-63815810	NHDF-neo	bronchial:	n/a
38	chr2:63815760-63815810	SK-N-SH	brain:	n/a
39	chr2:63815760-63815810	AG04449	skin:	fetal
40	chr2:63815760-63815810	AG10803	skin:	n/a
41	chr2:63815760-63815810	BJ	skin:	n/a
42	chr2:63815760-63815810	GM12891	blood:	n/a
43	chr2:63815760-63815810	HL-60	blood:	n/a
44	chr2:63815760-63815810	SKMC	muscle:	n/a
45	chr2:63815760-63815810	Jurkat	blood:	n/a
46	chr2:63815760-63815810	NT2-D1	testis:	n/a
47	chr2:63815760-63815810	HUVEC	blood vessel:	n/a
48	chr2:63815760-63815810	HCF	heart:	n/a
49	chr2:63815760-63815810	Hepatocyte	liver:	n/a
50	chr2:63815760-63815810	SK-N-MC	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:63815230..63817166-chr2:64066426..64068247,2	MCF-7	breast:
2	chr2:63814867..63817469-chr2:63922056..63924960,2	MCF-7	breast:
3	chr2:63814652..63820726-chr2:63822860..63830564,18	K562	blood:
4	chr1:161014965..161015754-chr2:63815057..63815914,2	HCT-116	colon:
5	chr2:63814719..63818163-chr2:63820081..63823220,6	MCF-7	breast:
6	chr2:63815242..63817655-chr2:63832171..63835443,3	MCF-7	breast:
7	chr2:63814544..63817562-chr2:63819288..63824360,10	K562	blood:

No data

Variant related genes	Relation type
MDH1	TF binding region
WDPCP	TF binding region
MDH1	CpG island
WDPCP	CpG island
ENSG00000169764	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000221085	Chromatin interaction
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10164844	0.87[JPT][hapmap]
rs10171190	0.80[JPT][hapmap]
rs10200146	0.87[JPT][hapmap]
rs10209140	0.86[JPT][hapmap]
rs10209490	0.80[JPT][hapmap]
rs1022351	0.80[JPT][hapmap]
rs1022353	0.80[JPT][hapmap]
rs10496102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1109027	0.85[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12463603	0.80[EUR][1000 genomes]
rs12464471	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12470478	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12472865	0.84[CEU][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12476015	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13409031	0.80[JPT][hapmap]
rs13422170	0.80[JPT][hapmap]
rs17554675	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17617855	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17618045	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs17618390	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17619354	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2138791	0.80[JPT][hapmap]
rs2168274	0.81[JPT][hapmap]
rs2178678	0.80[JPT][hapmap]
rs2421891	0.86[JPT][hapmap]
rs2421892	0.80[JPT][hapmap]
rs4567921	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671061	0.80[JPT][hapmap]
rs4671062	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4671506	0.81[JPT][hapmap]
rs4671522	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56219461	0.80[ASN][1000 genomes]
rs6546023	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6731136	0.87[JPT][hapmap]
rs6735907	0.80[JPT][hapmap]
rs72806004	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72806010	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806027	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72806055	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72806058	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72806082	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806089	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72806095	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821628	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72821630	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72821631	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72821632	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2278718	ENSG00000014641	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63813000-63817800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr2:63813400-63817400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:63813400-63817400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:63813400-63817600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:63813600-63817000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:63813600-63817000	Active TSS	K562	blood
7	chr2:63813600-63817200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:63813800-63816800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:63813800-63817000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:63813800-63817000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:63813800-63817200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:63814000-63817200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:63814000-63817400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:63814000-63817400	Active TSS	GM12878-XiMat	blood
15	chr2:63814200-63816800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:63814200-63817000	Active TSS	A549	lung
17	chr2:63814200-63817000	Active TSS	NHLF	lung
18	chr2:63814200-63820000	Active TSS	Right Ventricle	heart
19	chr2:63814400-63816800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:63814400-63816800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:63814400-63816800	Active TSS	Fetal Brain Male	brain
22	chr2:63814400-63817000	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:63814400-63817000	Active TSS	HMEC	breast
24	chr2:63814400-63817000	Active TSS	NHDF-Ad	bronchial
25	chr2:63814400-63817400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:63814400-63819200	Active TSS	Right Atrium	heart
27	chr2:63814600-63816800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:63814600-63816800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:63814600-63816800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:63814600-63816800	Active TSS	Fetal Intestine Small	intestine
31	chr2:63814600-63817000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:63814600-63817000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:63814600-63817000	Active TSS	Colon Smooth Muscle	Colon
34	chr2:63814600-63817200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:63814600-63817200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:63814600-63817200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:63814600-63817200	Active TSS	HSMM	muscle
38	chr2:63814600-63817600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr2:63814800-63816600	Active TSS	Small Intestine	intestine
40	chr2:63814800-63816600	Active TSS	Stomach Smooth Muscle	stomach
41	chr2:63814800-63816800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:63814800-63816800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:63814800-63816800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:63814800-63816800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:63814800-63816800	Active TSS	Fetal Intestine Large	intestine
46	chr2:63814800-63816800	Active TSS	Lung	lung
47	chr2:63814800-63816800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:63814800-63817000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:63814800-63817000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:63814800-63817000	Active TSS	Primary T killer memory cells from peripheral blood	blood

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