Variant report

Variant	rs149608985
Chromosome Location	chr14:68141998-68141999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

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	RCOR1	chr14:68140931-68142080	K562	blood:	n/a	n/a
3	GABPA	chr14:68141014-68142143	MCF-7	breast:	n/a	n/a
4	CHD2	chr14:68140934-68142088	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:68140700-68142664	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFATC1	chr14:68141279-68142118	GM12878	blood:	n/a	chr14:68141836-68141850
7	HDAC2	chr14:68140687-68142352	MCF-7	breast:	n/a	n/a
8	BCL3	chr14:68141084-68142066	A549	lung:	n/a	n/a
9	ZBTB7A	chr14:68140901-68142110	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:68140901-68142407	GM18505	blood:	n/a	n/a
11	POLR2A	chr14:68140824-68142103	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:68140706-68143131	SK-N-MC	brain:	n/a	n/a
13	CTCF	chr14:68141860-68142010	NHEK	skin:	n/a	n/a
14	ZBTB7A	chr14:68140819-68142026	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr14:68141362-68142352	A549	lung:	n/a	n/a
16	HCFC1	chr14:68140967-68142048	K562	blood:	n/a	n/a
17	ELF1	chr14:68140802-68142180	MCF-7	breast:	n/a	n/a
18	UBTF	chr14:68140771-68142303	K562	blood:	n/a	n/a
19	POLR2A	chr14:68140877-68142016	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:68140547-68142492	HepG2	liver:	n/a	n/a
21	GATA3	chr14:68141329-68142449	A549	lung:	n/a	n/a
22	MAX	chr14:68140872-68142329	K562	blood:	n/a	n/a
23	POLR2A	chr14:68140782-68142079	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr14:68140839-68142719	Hela-S3	cervix:	n/a	n/a
25	SREBP1	chr14:68140061-68142137	GM12878	blood:	n/a	n/a
26	SP1	chr14:68140695-68142032	A549	lung:	n/a	chr14:68140968-68140978 chr14:68141543-68141550 chr14:68141610-68141621 chr14:68140968-68140978
27	EGR1	chr14:68140777-68142037	MCF-7	breast:	n/a	chr14:68141077-68141086 chr14:68141404-68141413 chr14:68141624-68141648 chr14:68141076-68141089
28	STAT5A	chr14:68140933-68142012	GM12878	blood:	n/a	n/a
29	MBD4	chr14:68141577-68142003	HepG2	liver:	n/a	n/a
30	MTA3	chr14:68140907-68142525	GM12878	blood:	n/a	n/a
31	ELF1	chr14:68141025-68142101	MCF-7	breast:	n/a	n/a
32	SIX5	chr14:68141196-68142011	GM12878	blood:	n/a	chr14:68141635-68141649
33	POLR2A	chr14:68140317-68142051	IMR90	lung:	n/a	n/a
34	CTCF	chr14:68141688-68142037	K562	blood:	n/a	n/a
35	POLR2A	chr14:68140829-68142068	MCF-7	breast:	n/a	n/a
36	POLR2A	chr14:68140810-68142024	GM12892	blood:	n/a	n/a
37	MAX	chr14:68140987-68142142	A549	lung:	n/a	n/a
38	POLR2A	chr14:68140869-68142814	HepG2	liver:	n/a	n/a
39	MAX	chr14:68140829-68142037	K562	blood:	n/a	n/a
40	POLR2A	chr14:68140674-68142494	GM12891	blood:	n/a	n/a
41	CREB1	chr14:68140779-68142092	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:68140888-68142074	GM19099	blood:	n/a	n/a
43	POLR2A	chr14:68140729-68142457	MCF-7	breast:	n/a	n/a
44	ELF1	chr14:68140820-68142120	GM12878	blood:	n/a	n/a
45	HMGN3	chr14:68140886-68142069	K562	blood:	n/a	n/a
46	CTCF	chr14:68141471-68142061	IMR90	lung:	n/a	n/a
47	POLR2A	chr14:68140810-68142066	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:68140873-68142520	GM19193	blood:	n/a	n/a
49	POLR2A	chr14:68140890-68142158	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr14:68140949-68142021	GM12891	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	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
6	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
7	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
8	chr14:68084959..68087068-chr14:68141857..68143794,2	K562	blood:
9	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
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	chr14:67825002..67827453-chr14:68141571..68143576,2	K562	blood:

No data

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	chr14:68139800-68142200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68139800-68142200	Active TSS	Ovary	ovary
9	chr14:68139800-68142200	Active TSS	NHDF-Ad	bronchial
10	chr14:68139800-68142600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:68140000-68142000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:68140000-68142200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:68140000-68142200	Active TSS	Right Atrium	heart
14	chr14:68140200-68142000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:68140200-68142000	Active TSS	Right Ventricle	heart
16	chr14:68140200-68142200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:68140200-68142200	Active TSS	HSMM	muscle
18	chr14:68140200-68142200	Active TSS	NHLF	lung
19	chr14:68140200-68142400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:68140200-68142400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:68140200-68142400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:68140200-68142400	Active TSS	A549	lung
23	chr14:68140400-68142000	Active TSS	Aorta	Aorta
24	chr14:68140400-68142000	Active TSS	Esophagus	oesophagus
25	chr14:68140400-68142000	Active TSS	Fetal Intestine Large	intestine
26	chr14:68140400-68142000	Active TSS	Fetal Muscle Trunk	muscle
27	chr14:68140400-68142000	Active TSS	Rectal Smooth Muscle	rectum
28	chr14:68140400-68142000	Active TSS	Small Intestine	intestine
29	chr14:68140400-68142000	Active TSS	K562	blood
30	chr14:68140400-68142200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:68140400-68142200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:68140400-68142200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:68140400-68142200	Active TSS	Fetal Kidney	kidney
34	chr14:68140400-68142200	Active TSS	Left Ventricle	heart
35	chr14:68140400-68142400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:68140400-68142400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:68140400-68142400	Active TSS	Gastric	stomach
38	chr14:68140400-68142600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:68140600-68142000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:68140600-68142000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68140600-68142000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr14:68140600-68142000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:68140600-68142000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:68140600-68142000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:68140600-68142000	Active TSS	Colonic Mucosa	Colon
46	chr14:68140600-68142000	Active TSS	Fetal Stomach	stomach
47	chr14:68140600-68142000	Active TSS	Pancreas	Pancrea
48	chr14:68140600-68142000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr14:68140600-68142000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr14:68140600-68142000	Active TSS	HSMMtube	muscle

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