Variant report

Variant	rs3759762
Chromosome Location	chr14:68142552-68142553
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68140700-68142664	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:68142542-68142563	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:68140706-68143131	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:68142187-68142602	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:68142530-68142781	ProgFib	skin:	n/a	n/a
6	POLR2A	chr14:68140839-68142719	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:68142185-68142581	K562	blood:	n/a	n/a
8	POLR2A	chr14:68140869-68142814	HepG2	liver:	n/a	n/a
9	MAX	chr14:68142079-68142570	K562	blood:	n/a	chr14:68142470-68142481 chr14:68142471-68142480 chr14:68142469-68142482 chr14:68142473-68142480 chr14:68142466-68142485
10	POLR2A	chr14:68142239-68142676	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:68141475-68142571	A549	lung:	n/a	n/a
12	POLR2A	chr14:68140544-68143607	K562	blood:	n/a	n/a
13	HCFC1	chr14:68140342-68142614	Hela-S3	cervix:	n/a	n/a
14	MAX	chr14:68140730-68142556	MCF-7	breast:	n/a	chr14:68142470-68142481 chr14:68142471-68142480 chr14:68142469-68142482 chr14:68142473-68142480 chr14:68142466-68142485
15	POLR2A	chr14:68140838-68142629	K562	blood:	n/a	n/a
16	POLR2A	chr14:68142458-68142698	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:68142221-68142638	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr14:68141336-68142623	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68142533-68142583	GM12892	blood:	n/a
2	chr14:68142533-68142583	ECC-1	luminal epithelium:	n/a
3	chr14:68142533-68142583	PFSK-1	brain:	n/a
4	chr14:68142533-68142583	GM19239	blood:	n/a
5	chr14:68142533-68142583	Hela-S3	cervix:	n/a
6	chr14:68142533-68142583	HCPEpiC	choroid plexus:	n/a
7	chr14:68142533-68142583	Hepatocyte	liver:	n/a
8	chr14:68142533-68142583	HCT-116	colon:	n/a
9	chr14:68142533-68142583	HUVEC	blood vessel:	n/a
10	chr14:68142533-68142583	NHBE	bronchial:	n/a
11	chr14:68142533-68142583	PANC-1	pancreas:	n/a
12	chr14:68142533-68142583	HCF	heart:	n/a
13	chr14:68142533-68142583	HNPCEpiC	eye:	n/a
14	chr14:68142533-68142583	HL-60	blood:	n/a
15	chr14:68142533-68142583	NT2-D1	testis:	n/a
16	chr14:68142533-68142583	K562	blood:	n/a
17	chr14:68142533-68142583	HEEpiC	esophagus:	n/a
18	chr14:68142533-68142583	NB4	blood:	n/a
19	chr14:68142533-68142583	Caco-2	colon:	n/a
20	chr14:68142533-68142583	HepG2	liver:	n/a
21	chr14:68142533-68142583	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:68142533-68142583	AG10803	skin:	n/a
23	chr14:68142533-68142583	SK-N-SH	brain:	n/a
24	chr14:68142533-68142583	HMEC	breast:	n/a
25	chr14:68142533-68142583	SK-N-MC	brain:	n/a
26	chr14:68142533-68142583	SAEC	small airway:	n/a
27	chr14:68142533-68142583	HRE	kidney:	n/a
28	chr14:68142533-68142583	A549	lung:	n/a
29	chr14:68142533-68142583	LNCaP	prostate:	n/a
30	chr14:68142533-68142583	HIPEpiC	eye:	n/a
31	chr14:68142533-68142583	SKMC	muscle:	n/a
32	chr14:68142533-68142583	MCF-7	breast:	n/a
33	chr14:68142533-68142583	HCM	heart:	n/a
34	chr14:68142533-68142583	PrEC	prostate:	n/a
35	chr14:68142533-68142583	AG04449	skin:	fetal
36	chr14:68142533-68142583	AG04450	lung:	fetal
37	chr14:68142533-68142583	BE2_C	brain:	n/a
38	chr14:68142533-68142583	ovcar-3	ovarian:	n/a
39	chr14:68142533-68142583	CMK	blood:	n/a
40	chr14:68142533-68142583	ProgFib	skin:	n/a
41	chr14:68142533-68142583	GM12878	blood:	n/a
42	chr14:68142533-68142583	T-47D	breast:	n/a
43	chr14:68142533-68142583	NH-A	brain:	n/a
44	chr14:68142533-68142583	IMR90	lung:	fetal
45	chr14:68142533-68142583	HAEpiC	amniotic membrane:	n/a
46	chr14:68142533-68142583	HRPEpiC	eye:	n/a
47	chr14:68142533-68142583	BJ	skin:	n/a
48	chr14:68142533-68142583	H1-hESC	embryonic stem cell:	embryo
49	chr14:68142533-68142583	GM06990	blood:	n/a
50	chr14:68142533-68142583	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
2	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
3	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
4	chr14:68084959..68087068-chr14:68141857..68143794,2	K562	blood:
5	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
6	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
7	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
8	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:
9	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
10	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
11	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
12	chr14:67825002..67827453-chr14:68141571..68143576,2	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
VTI1B	CpG island
ENSG00000100554	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000272253	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1007283	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12147055	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12879877	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880440	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881114	0.85[CEU][hapmap]
rs12881351	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881994	1.00[CEU][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12882423	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12882561	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882897	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12884644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884764	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12886140	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12888119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12889011	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889276	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12889527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12890397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892204	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12892919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893115	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12893900	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893907	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894707	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12896052	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12898042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17249649	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34970739	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59922989	0.85[AFR][1000 genomes]
rs60782801	0.85[AFR][1000 genomes]
rs7147925	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7410	0.85[CEU][hapmap]
rs8007557	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68139600-68142600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:68139600-68142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:68139800-68142600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:68140400-68142600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:68140600-68142600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:68140800-68142600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:68140800-68142600	Active TSS	Brain Anterior Caudate	brain
8	chr14:68140800-68142600	Active TSS	Colon Smooth Muscle	Colon
9	chr14:68141800-68142600	Flanking Active TSS	Dnd41	blood
10	chr14:68142000-68142600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:68142200-68142600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:68142200-68142600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:68142200-68142600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:68142200-68142600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:68142200-68142600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:68142200-68142600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:68142200-68142600	Enhancers	Fetal Intestine Small	intestine
19	chr14:68142200-68142600	Enhancers	Lung	lung
20	chr14:68142200-68142600	Enhancers	Pancreas	Pancrea
21	chr14:68142200-68142600	Active TSS	Hela-S3	cervix
22	chr14:68142200-68142800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:68142200-68144200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:68142200-68144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:68142200-68144200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:68142200-68144200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:68142200-68144200	Weak transcription	Ovary	ovary
28	chr14:68142200-68144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:68142200-68144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:68142200-68144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:68142200-68144400	Weak transcription	Aorta	Aorta
32	chr14:68142200-68144400	Weak transcription	Esophagus	oesophagus
33	chr14:68142200-68144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:68142200-68147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:68142200-68147800	Weak transcription	Small Intestine	intestine
36	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
40	chr14:68142400-68142600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:68142400-68142600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:68142400-68142600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:68142400-68142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:68142400-68142600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:68142400-68142600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:68142400-68142600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:68142400-68142600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:68142400-68142600	Enhancers	Adipose Nuclei	Adipose
49	chr14:68142400-68142600	Active TSS	Duodenum Mucosa	Duodenum
50	chr14:68142400-68142600	Enhancers	Duodenum Smooth Muscle	Duodenum

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