Variant report

Variant	rs376832253
Chromosome Location	chr14:68142189-68142190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr14:68142167-68142548	GM12878	blood:	n/a	chr14:68142518-68142526
2	POLR2A	chr14:68140700-68142664	H1-hESC	embryonic stem cell:	n/a	n/a
3	HDAC2	chr14:68140687-68142352	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:68140901-68142407	GM18505	blood:	n/a	n/a
5	POLR2A	chr14:68140706-68143131	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr14:68142187-68142602	GM12892	blood:	n/a	n/a
7	MAX	chr14:68141362-68142352	A549	lung:	n/a	n/a
8	UBTF	chr14:68140771-68142303	K562	blood:	n/a	n/a
9	POLR2A	chr14:68140547-68142492	HepG2	liver:	n/a	n/a
10	GATA3	chr14:68141329-68142449	A549	lung:	n/a	n/a
11	MAX	chr14:68140872-68142329	K562	blood:	n/a	n/a
12	POLR2A	chr14:68140839-68142719	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:68142185-68142581	K562	blood:	n/a	n/a
14	POLR2A	chr14:68142160-68142438	HCT-116	colon:	n/a	n/a
15	POLR2A	chr14:68142054-68142478	SK-N-SH	brain:	n/a	n/a
16	MTA3	chr14:68140907-68142525	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:68140869-68142814	HepG2	liver:	n/a	n/a
18	MAX	chr14:68142079-68142570	K562	blood:	n/a	chr14:68142470-68142481 chr14:68142471-68142480 chr14:68142469-68142482 chr14:68142473-68142480 chr14:68142466-68142485
19	POLR2A	chr14:68140674-68142494	GM12891	blood:	n/a	n/a
20	POLR2A	chr14:68140729-68142457	MCF-7	breast:	n/a	n/a
21	POLR2A	chr14:68140873-68142520	GM19193	blood:	n/a	n/a
22	POLR2A	chr14:68140879-68142542	K562	blood:	n/a	n/a
23	POLR2A	chr14:68140801-68142522	K562	blood:	n/a	n/a
24	POLR2A	chr14:68140881-68142513	K562	blood:	n/a	n/a
25	CTBP2	chr14:68141097-68142210	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr14:68140868-68142361	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:68140866-68142543	K562	blood:	n/a	n/a
28	BRCA1	chr14:68141417-68142354	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:68141475-68142571	A549	lung:	n/a	n/a
30	POLR2A	chr14:68140868-68142248	NB4	blood:	n/a	n/a
31	E2F6	chr14:68141341-68142303	K562	blood:	n/a	chr14:68141410-68141417 chr14:68141410-68141417 chr14:68141404-68141413 chr14:68141410-68141417
32	POLR2A	chr14:68140782-68142507	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr14:68142136-68142540	K562	blood:	n/a	n/a
34	PML	chr14:68140718-68142413	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:68140544-68143607	K562	blood:	n/a	n/a
36	HCFC1	chr14:68140342-68142614	Hela-S3	cervix:	n/a	n/a
37	REST	chr14:68140555-68142227	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr14:68140904-68142367	GM12892	blood:	n/a	n/a
39	POLR2A	chr14:68140863-68142508	HEK293	kidney:	n/a	n/a
40	SIN3A	chr14:68140553-68142408	H1-hESC	embryonic stem cell:	n/a	chr14:68141270-68141281
41	SIN3AK20	chr14:68140525-68142515	MCF-7	breast:	n/a	n/a
42	SMARCB1	chr14:68140900-68142282	Hela-S3	cervix:	n/a	n/a
43	MAX	chr14:68140730-68142556	MCF-7	breast:	n/a	chr14:68142470-68142481 chr14:68142471-68142480 chr14:68142469-68142482 chr14:68142473-68142480 chr14:68142466-68142485
44	MXI1	chr14:68140312-68142415	IMR90	lung:	n/a	n/a
45	POLR2A	chr14:68140698-68142448	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr14:68140748-68142247	A549	lung:	n/a	n/a
47	JUND	chr14:68140871-68142252	A549	lung:	n/a	n/a
48	TCF12	chr14:68141044-68142440	A549	lung:	n/a	n/a
49	POLR2A	chr14:68140796-68142221	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr14:68140788-68142391	U87	brain:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
2	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
3	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
4	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
5	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
6	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
7	chr14:68084959..68087068-chr14:68141857..68143794,2	K562	blood:
8	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
9	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
10	chr1:149856880..149859057-chr14:68139799..68142421,2	MCF-7	breast:
11	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
12	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:
13	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
14	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:
15	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
16	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
17	chr14:67825002..67827453-chr14:68141571..68143576,2	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000134001	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000272253	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000241542	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000258466	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	chr14:68139600-68142400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:68139600-68142400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:68139600-68142400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:68139600-68142600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:68139600-68142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:68139800-68142200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:68139800-68142200	Active TSS	Ovary	ovary
8	chr14:68139800-68142200	Active TSS	NHDF-Ad	bronchial
9	chr14:68139800-68142600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:68140000-68142200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:68140000-68142200	Active TSS	Right Atrium	heart
12	chr14:68140200-68142200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:68140200-68142200	Active TSS	HSMM	muscle
14	chr14:68140200-68142200	Active TSS	NHLF	lung
15	chr14:68140200-68142400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr14:68140200-68142400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr14:68140200-68142400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:68140200-68142400	Active TSS	A549	lung
19	chr14:68140400-68142200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:68140400-68142200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:68140400-68142200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:68140400-68142200	Active TSS	Fetal Kidney	kidney
23	chr14:68140400-68142200	Active TSS	Left Ventricle	heart
24	chr14:68140400-68142400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr14:68140400-68142400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:68140400-68142400	Active TSS	Gastric	stomach
27	chr14:68140400-68142600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr14:68140600-68142200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:68140600-68142200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:68140600-68142200	Active TSS	Brain Substantia Nigra	brain
31	chr14:68140600-68142200	Active TSS	Psoas Muscle	Psoas
32	chr14:68140600-68142400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:68140600-68142400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:68140600-68142400	Active TSS	Fetal Brain Female	brain
35	chr14:68140600-68142600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:68140800-68142200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:68140800-68142200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr14:68140800-68142200	Active TSS	Fetal Intestine Small	intestine
39	chr14:68140800-68142200	Active TSS	Thymus	Thymus
40	chr14:68140800-68142400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr14:68140800-68142400	Active TSS	Fetal Brain Male	brain
42	chr14:68140800-68142400	Active TSS	Spleen	Spleen
43	chr14:68140800-68142600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:68140800-68142600	Active TSS	Brain Anterior Caudate	brain
45	chr14:68140800-68142600	Active TSS	Colon Smooth Muscle	Colon
46	chr14:68141000-68142200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:68141000-68142200	Active TSS	Fetal Lung	lung
48	chr14:68141000-68142400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr14:68141600-68142200	Flanking Active TSS	HMEC	breast
50	chr14:68141600-68142400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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