Variant report

Variant	rs2234508
Chromosome Location	chr14:68141549-68141550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:381)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68140766-68142059	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr14:68141203-68141978	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr14:68140931-68142080	K562	blood:	n/a	n/a
4	GABPA	chr14:68141014-68142143	MCF-7	breast:	n/a	n/a
5	MAX	chr14:68141433-68141941	ECC-1	luminal epithelium:	n/a	n/a
6	PML	chr14:68140872-68141948	MCF-7	breast:	n/a	n/a
7	TAF1	chr14:68141102-68141757	K562	blood:	n/a	n/a
8	TCF7L2	chr14:68141209-68141954	HCT-116	colon:	n/a	n/a
9	MAZ	chr14:68140691-68141891	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:68140884-68141892	A549	lung:	n/a	n/a
11	SP1	chr14:68141103-68141875	GM12878	blood:	n/a	chr14:68141543-68141550 chr14:68141610-68141621
12	YY1	chr14:68140933-68141844	GM12892	blood:	n/a	chr14:68141434-68141448
13	TBP	chr14:68140671-68141961	K562	blood:	n/a	n/a
14	CHD2	chr14:68140934-68142088	HepG2	liver:	n/a	n/a
15	SP1	chr14:68141267-68141777	HepG2	liver:	n/a	chr14:68141543-68141550 chr14:68141610-68141621
16	YY1	chr14:68140899-68141913	K562	blood:	n/a	chr14:68141434-68141448
17	MYC	chr14:68141527-68141926	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:68140700-68142664	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFATC1	chr14:68141279-68142118	GM12878	blood:	n/a	chr14:68141836-68141850
20	JUND	chr14:68141148-68141951	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB33	chr14:68141412-68141884	GM12878	blood:	n/a	n/a
22	FOXM1	chr14:68141142-68141819	GM12878	blood:	n/a	n/a
23	EGR1	chr14:68141174-68141596	GM12878	blood:	n/a	chr14:68141404-68141413
24	HDAC2	chr14:68140687-68142352	MCF-7	breast:	n/a	n/a
25	YY1	chr14:68141488-68141990	SK-N-SH_RA	brain:	n/a	n/a
26	BRCA1	chr14:68141412-68141844	GM12878	blood:	n/a	n/a
27	GABPA	chr14:68141544-68141685	GM12878	blood:	n/a	n/a
28	SP1	chr14:68141282-68141885	K562	blood:	n/a	chr14:68141543-68141550 chr14:68141610-68141621
29	BCL3	chr14:68141084-68142066	A549	lung:	n/a	n/a
30	ZNF143	chr14:68140875-68141871	Hela-S3	cervix:	n/a	chr14:68141629-68141647
31	ZBTB7A	chr14:68140901-68142110	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr14:68140887-68141972	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:68140901-68142407	GM18505	blood:	n/a	n/a
34	POLR2A	chr14:68140824-68142103	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:68140706-68143131	SK-N-MC	brain:	n/a	n/a
36	YY1	chr14:68140896-68141867	GM12878	blood:	n/a	chr14:68141434-68141448
37	POLR2A	chr14:68140837-68141911	GM12878	blood:	n/a	n/a
38	ZBTB7A	chr14:68140819-68142026	ECC-1	luminal epithelium:	n/a	n/a
39	SIN3AK20	chr14:68141149-68141989	A549	lung:	n/a	n/a
40	ELK4	chr14:68141149-68141896	Hela-S3	cervix:	n/a	n/a
41	MAX	chr14:68141362-68142352	A549	lung:	n/a	n/a
42	POLR2A	chr14:68140907-68141875	HepG2	liver:	n/a	n/a
43	RFX5	chr14:68140840-68141938	Hela-S3	cervix:	n/a	n/a
44	ATF2	chr14:68141287-68141763	H1-hESC	embryonic stem cell:	n/a	n/a
45	RUNX3	chr14:68141063-68141726	GM12878	blood:	n/a	n/a
46	RCOR1	chr14:68141368-68141916	K562	blood:	n/a	n/a
47	HCFC1	chr14:68140967-68142048	K562	blood:	n/a	n/a
48	POLR2A	chr14:68140793-68141911	HCT-116	colon:	n/a	n/a
49	ELF1	chr14:68140802-68142180	MCF-7	breast:	n/a	n/a
50	BCLAF1	chr14:68141052-68141941	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:68140439..68142137-chr14:69262660..69264249,2	MCF-7	breast:
2	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
3	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
4	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
5	chr14:68139549..68141968-chr9:127622752..127624278,2	MCF-7	breast:
6	chr1:110527148..110527873-chr14:68140978..68141610,2	Hela-S3	cervix:
7	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
8	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
9	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
10	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
11	chr1:149856880..149859057-chr14:68139799..68142421,2	MCF-7	breast:
12	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
13	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:
14	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
15	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:
16	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
17	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
18	chr10:60145081..60145615-chr14:68140970..68141549,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000081181	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000136942	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000241542	Chromatin interaction
ENSG00000168710	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000272253	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000108064	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72723147	1.00[AFR][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	chr14:68139600-68142000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:68139600-68142400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:68139600-68142400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:68139600-68142400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:68139600-68142600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:68139600-68142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:68139800-68141800	Active TSS	Hela-S3	cervix
8	chr14:68139800-68142200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68139800-68142200	Active TSS	Ovary	ovary
10	chr14:68139800-68142200	Active TSS	NHDF-Ad	bronchial
11	chr14:68139800-68142600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:68140000-68142000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:68140000-68142200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:68140000-68142200	Active TSS	Right Atrium	heart
15	chr14:68140200-68142000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:68140200-68142000	Active TSS	Right Ventricle	heart
17	chr14:68140200-68142200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:68140200-68142200	Active TSS	HSMM	muscle
19	chr14:68140200-68142200	Active TSS	NHLF	lung
20	chr14:68140200-68142400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr14:68140200-68142400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:68140200-68142400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:68140200-68142400	Active TSS	A549	lung
24	chr14:68140400-68141800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr14:68140400-68142000	Active TSS	Aorta	Aorta
26	chr14:68140400-68142000	Active TSS	Esophagus	oesophagus
27	chr14:68140400-68142000	Active TSS	Fetal Intestine Large	intestine
28	chr14:68140400-68142000	Active TSS	Fetal Muscle Trunk	muscle
29	chr14:68140400-68142000	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:68140400-68142000	Active TSS	Small Intestine	intestine
31	chr14:68140400-68142000	Active TSS	K562	blood
32	chr14:68140400-68142200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:68140400-68142200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:68140400-68142200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:68140400-68142200	Active TSS	Fetal Kidney	kidney
36	chr14:68140400-68142200	Active TSS	Left Ventricle	heart
37	chr14:68140400-68142400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr14:68140400-68142400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68140400-68142400	Active TSS	Gastric	stomach
40	chr14:68140400-68142600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:68140600-68141800	Active TSS	Fetal Muscle Leg	muscle
42	chr14:68140600-68141800	Active TSS	Placenta	Placenta
43	chr14:68140600-68141800	Active TSS	Lung	lung
44	chr14:68140600-68141800	Bivalent/Poised TSS	HepG2	liver
45	chr14:68140600-68142000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:68140600-68142000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:68140600-68142000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:68140600-68142000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:68140600-68142000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:68140600-68142000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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