Variant report

Variant	rs61021873
Chromosome Location	chr14:24900311-24900312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr14:24899603-24900507	GM12878	blood:	n/a	n/a
2	HEY1	chr14:24898468-24900380	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24898480-24900532	GM12891	blood:	n/a	n/a
4	MAZ	chr14:24898402-24901483	IMR90	lung:	n/a	chr14:24898793-24898803
5	POLR2A	chr14:24898571-24900371	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24898440-24900415	GM19193	blood:	n/a	n/a
7	POLR2A	chr14:24899622-24900315	K562	blood:	n/a	n/a
8	BHLHE40	chr14:24900264-24900576	GM12878	blood:	n/a	n/a
9	RELA	chr14:24898678-24901293	GM10847	blood:	n/a	chr14:24900296-24900305 chr14:24900296-24900305
10	ELF1	chr14:24898344-24902623	MCF-7	breast:	n/a	chr14:24899135-24899148 chr14:24899076-24899085
11	POLR2A	chr14:24898460-24900405	GM18505	blood:	n/a	n/a
12	RELA	chr14:24898892-24901321	GM18951	blood:	n/a	chr14:24900296-24900305 chr14:24900296-24900305
13	SMC3	chr14:24900139-24900319	GM12878	blood:	n/a	n/a
14	MBD4	chr14:24899344-24901534	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:24898385-24900351	GM12891	blood:	n/a	n/a
16	POLR2A	chr14:24898236-24902272	GM12892	blood:	n/a	n/a
17	MYBL2	chr14:24898250-24901543	HepG2	liver:	n/a	n/a
18	ELF1	chr14:24899721-24900354	GM12878	blood:	n/a	n/a
19	TBP	chr14:24900044-24900397	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:24898282-24900653	HepG2	liver:	n/a	n/a
21	PAX5	chr14:24899923-24900497	GM12878	blood:	n/a	chr14:24900320-24900329
22	NFIC	chr14:24898345-24900376	HepG2	liver:	n/a	n/a
23	CHD1	chr14:24898801-24900507	GM12878	blood:	n/a	n/a
24	MAX	chr14:24898305-24900412	MCF-7	breast:	n/a	chr14:24898793-24898803
25	EP300	chr14:24900204-24900430	GM12878	blood:	n/a	n/a
26	RELA	chr14:24899627-24900592	GM15510	blood:	n/a	chr14:24900296-24900305 chr14:24900296-24900305
27	RELA	chr14:24899649-24900557	GM19193	blood:	n/a	chr14:24900296-24900305 chr14:24900296-24900305
28	SP1	chr14:24899912-24900311	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:24898586-24900456	GM18951	blood:	n/a	n/a
30	POLR2A	chr14:24898555-24900328	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr14:24898343-24902509	GM12892	blood:	n/a	n/a
32	POLR2A	chr14:24898301-24900566	HUVEC	blood vessel:	n/a	n/a
33	EBF1	chr14:24900082-24901261	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:24898437-24900778	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr14:24898750-24900485	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:24898685-24900375	HUVEC	blood vessel:	n/a	n/a
37	STAT5A	chr14:24899744-24900765	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:24898798-24900422	GM18526	blood:	n/a	n/a
39	POLR2A	chr14:24898344-24901191	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr14:24898421-24901913	GM12878	blood:	n/a	n/a
41	MXI1	chr14:24898813-24900525	GM12878	blood:	n/a	n/a
42	MAZ	chr14:24898768-24900394	GM12878	blood:	n/a	chr14:24898793-24898803
43	POLR2A	chr14:24898379-24900352	GM12891	blood:	n/a	n/a
44	ZNF143	chr14:24900112-24900371	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:24898332-24900530	Raji	blood:	n/a	n/a
46	MAX	chr14:24895865-24900331	HepG2	liver:	n/a	chr14:24898793-24898803
47	MTA3	chr14:24899663-24900521	GM12878	blood:	n/a	n/a
48	RELA	chr14:24899531-24900493	GM18505	blood:	n/a	chr14:24900296-24900305 chr14:24900296-24900305
49	POLR2A	chr14:24898270-24902398	GM12892	blood:	n/a	n/a
50	POLR2A	chr14:24898689-24900470	MCF-7	breast:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24681602..24685045-chr14:24898549..24902277,4	MCF-7	breast:
2	chr14:24833553..24839988-chr14:24894553..24902357,9	K562	blood:
3	chr14:24663295..24665382-chr14:24899130..24900830,2	MCF-7	breast:
4	chr14:24710331..24713124-chr14:24894765..24900704,5	MCF-7	breast:
5	chr14:24833707..24839988-chr14:24896546..24902736,10	K562	blood:
6	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
7	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
8	chr11:60927487..60929206-chr14:24898894..24900435,2	MCF-7	breast:
9	chr14:24857849..24868599-chr14:24892485..24903992,27	MCF-7	breast:
10	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
11	chr14:24700875..24703033-chr14:24898892..24902478,3	MCF-7	breast:
12	chr14:24861304..24861906-chr14:24900178..24901195,3	MCF-7	breast:
13	chr14:24582627..24585556-chr14:24899491..24902320,3	K562	blood:
14	chr14:24800992..24801744-chr14:24900235..24901009,2	MCF-7	breast:
15	chr14:24709552..24713134-chr14:24898718..24901467,5	MCF-7	breast:
16	chr14:24773182..24775572-chr14:24899600..24904217,4	MCF-7	breast:
17	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
18	chr14:24700052..24703046-chr14:24899147..24901202,2	K562	blood:
19	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
20	chr14:24705394..24707456-chr14:24899113..24901085,2	MCF-7	breast:
21	chr14:24834239..24835761-chr14:24900242..24902851,45	MCF-7	breast:
22	chr14:24845008..24848281-chr14:24897427..24900354,3	K562	blood:
23	chr14:24766804..24771569-chr14:24898237..24903800,5	MCF-7	breast:
24	chr14:24779448..24783163-chr14:24897934..24900807,3	MCF-7	breast:
25	chr14:24800528..24803981-chr14:24898784..24901810,5	K562	blood:
26	chr14:24863920..24868653-chr14:24896299..24901214,6	MCF-7	breast:
27	chr14:24609424..24612056-chr14:24897977..24900717,2	MCF-7	breast:
28	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
29	chr14:24734952..24736987-chr14:24899499..24901815,2	MCF-7	breast:
30	chr14:24796459..24799989-chr14:24897944..24901736,5	K562	blood:
31	chr14:24768412..24770961-chr14:24898867..24900397,2	K562	blood:
32	chr14:24732224..24734539-chr14:24898247..24900627,2	MCF-7	breast:
33	chr14:24616178..24618107-chr14:24899295..24902257,2	MCF-7	breast:

No data

Variant related genes	Relation type
KHNYN	TF binding region
CBLN3	TF binding region
ENSG00000254505	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000207141	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000167987	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000092330	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73596937	1.00[AMR][1000 genomes]
rs73596976	1.00[AMR][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24898600-24900600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:24898600-24900600	Active TSS	Ovary	ovary
3	chr14:24898600-24900800	Active TSS	HSMMtube	muscle
4	chr14:24898600-24901000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:24898800-24900400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:24898800-24900400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr14:24898800-24900400	Active TSS	Aorta	Aorta
8	chr14:24898800-24900400	Active TSS	Psoas Muscle	Psoas
9	chr14:24898800-24900400	Active TSS	NHLF	lung
10	chr14:24898800-24900600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr14:24898800-24900600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:24898800-24900800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:24898800-24900800	Active TSS	Right Atrium	heart
14	chr14:24899000-24900400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:24899000-24900400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:24899000-24900400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:24899000-24900400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:24899000-24900400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr14:24899000-24900400	Active TSS	Lung	lung
20	chr14:24899000-24900400	Active TSS	NHDF-Ad	bronchial
21	chr14:24899000-24900600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:24899000-24900800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:24899000-24901200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:24899200-24900400	Active TSS	Gastric	stomach
25	chr14:24899400-24900800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:24899400-24900800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:24899600-24900400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:24899600-24900400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:24899600-24900400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:24899600-24900400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr14:24899600-24900400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr14:24899600-24900400	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr14:24899600-24900400	Flanking Active TSS	Fetal Brain Female	brain
34	chr14:24899600-24900600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:24899600-24900600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr14:24899600-24900600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr14:24899600-24900600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr14:24899600-24900600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:24899600-24900800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr14:24899600-24900800	Flanking Active TSS	Liver	Liver
41	chr14:24899600-24900800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr14:24899600-24901000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr14:24899600-24901000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
44	chr14:24899600-24901000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:24899600-24901000	Flanking Active TSS	Hela-S3	cervix
46	chr14:24899600-24901200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:24899600-24901200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr14:24899600-24901200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr14:24899600-24901200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr14:24899600-24901200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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