Variant report

Variant	rs2295320
Chromosome Location	chr14:24682767-24682768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:513)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24682698-24682801	Lung_OC	lung:	n/a	n/a
2	USF1	chr14:24682519-24683014	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
3	MAX	chr14:24682129-24683059	H1-hESC	embryonic stem cell:	n/a	n/a
4	RELA	chr14:24682219-24683103	GM19193	blood:	n/a	chr14:24682481-24682490 chr14:24682481-24682490
5	GABPA	chr14:24682092-24683132	MCF-7	breast:	n/a	n/a
6	GATA3	chr14:24682057-24683073	A549	lung:	n/a	n/a
7	CTCF	chr14:24682620-24682770	SAEC	small airway:	n/a	n/a
8	TAF1	chr14:24682055-24683147	H1-hESC	embryonic stem cell:	n/a	n/a
9	KAP1	chr14:24682252-24683104	U2OS	brain:	n/a	n/a
10	POLR2A	chr14:24682089-24683223	HL-60	blood:	n/a	n/a
11	USF1	chr14:24682517-24682988	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
12	ZNF263	chr14:24682173-24683011	HEK293-T-REx	kidney:	n/a	n/a
13	POU2F2	chr14:24682197-24682794	GM12878	blood:	n/a	n/a
14	SRF	chr14:24682261-24683089	ECC-1	luminal epithelium:	n/a	n/a
15	CHD2	chr14:24682217-24683010	GM12878	blood:	n/a	n/a
16	CREB1	chr14:24682473-24682989	A549	lung:	n/a	n/a
17	TCF3	chr14:24682471-24682771	GM12878	blood:	n/a	n/a
18	CHD2	chr14:24682316-24683042	HepG2	liver:	n/a	n/a
19	NR3C1	chr14:24682250-24682895	A549	lung:	n/a	n/a
20	ATF2	chr14:24682027-24682996	GM12878	blood:	n/a	n/a
21	TCF7L2	chr14:24682395-24682939	PANC-1	pancreas:	n/a	n/a
22	SP1	chr14:24682122-24683037	GM12878	blood:	n/a	chr14:24682339-24682349 chr14:24682339-24682349
23	ETS1	chr14:24682352-24682781	K562	blood:	n/a	n/a
24	MXI1	chr14:24682233-24682983	Hela-S3	cervix:	n/a	n/a
25	MYC	chr14:24682102-24683069	NB4	blood:	n/a	n/a
26	USF1	chr14:24682524-24683199	SK-N-SH	brain:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
27	CBX3	chr14:24682165-24682910	K562	blood:	n/a	n/a
28	MAZ	chr14:24682186-24683017	K562	blood:	n/a	n/a
29	ATF3	chr14:24682428-24682939	K562	blood:	n/a	n/a
30	CREB1	chr14:24682276-24683117	ECC-1	luminal epithelium:	n/a	n/a
31	TCF7L2	chr14:24682267-24682956	HCT-116	colon:	n/a	n/a
32	SP1	chr14:24682096-24683202	HCT-116	colon:	n/a	chr14:24682339-24682349 chr14:24682339-24682349
33	POLR2A	chr14:24682230-24683020	HepG2	liver:	n/a	n/a
34	MAX	chr14:24682096-24682991	SK-N-SH	brain:	n/a	n/a
35	TAF1	chr14:24682118-24682848	GM12878	blood:	n/a	n/a
36	MYC	chr14:24682620-24682860	HUVEC	blood vessel:	n/a	n/a
37	FOXA1	chr14:24682584-24682818	T-47D	breast:	n/a	n/a
38	ZBTB33	chr14:24682360-24682904	GM12878	blood:	n/a	n/a
39	PBX3	chr14:24682201-24682954	A549	lung:	n/a	n/a
40	USF1	chr14:24682172-24683081	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
41	POLR2A	chr14:24682062-24683050	GM12878	blood:	n/a	n/a
42	USF1	chr14:24682601-24683040	K562	blood:	n/a	chr14:24682800-24682811
43	FOXM1	chr14:24681998-24683067	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr14:24682123-24683086	HepG2	liver:	n/a	n/a
45	USF1	chr14:24682400-24683190	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
46	ELF1	chr14:24682125-24683132	SK-N-SH	brain:	n/a	n/a
47	MYBL2	chr14:24681937-24683555	HepG2	liver:	n/a	n/a
48	GTF2F1	chr14:24682325-24682981	K562	blood:	n/a	n/a
49	POLR2A	chr14:24682046-24683079	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr14:24682095-24683160	HL-60	blood:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24614698..24618732-chr14:24681293..24686635,9	MCF-7	breast:
2	chr14:24681838..24686459-chr14:24698203..24703209,7	K562	blood:
3	chr14:24682232..24682817-chr18:48723178..48724011,2	Hela-S3	cervix:
4	chr14:24681489..24683896-chr22:29136971..29139325,2	MCF-7	breast:
5	chr14:24657069..24662255-chr14:24679017..24683823,7	K562	blood:
6	chr14:24657069..24659757-chr14:24681163..24683823,2	K562	blood:
7	chr14:24562256..24566141-chr14:24679709..24684040,4	MCF-7	breast:
8	chr14:24682214..24683090-chr7:75544017..75544543,2	NB4	blood:
9	chr14:24682206..24682834-chr18:11980405..11981236,2	Hela-S3	cervix:
10	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
11	chr14:24682248..24683216-chr6:27777393..27778163,2	NB4	blood:
12	chr14:24644916..24647133-chr14:24681211..24683281,2	MCF-7	breast:
13	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
14	chr14:24582139..24585680-chr14:24681172..24684966,4	K562	blood:
15	chr14:24682382..24684800-chr14:24800505..24802328,2	K562	blood:
16	chr14:24680938..24683854-chr14:24736234..24738459,2	K562	blood:
17	chr14:24681602..24685045-chr14:24898549..24902277,4	MCF-7	breast:
18	chr14:24608866..24610755-chr14:24681114..24684449,4	MCF-7	breast:
19	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
20	chr14:24682311..24682883-chr19:12901848..12902816,2	NB4	blood:
21	chr14:24562071..24566026-chr14:24681194..24683838,4	K562	blood:
22	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
23	chr14:24682724..24684618-chr16:2203699..2206163,2	MCF-7	breast:
24	chr14:24608723..24612009-chr14:24681529..24684015,3	K562	blood:
25	chr14:24682279..24682848-chr15:78556323..78556942,2	Hela-S3	cervix:
26	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
27	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
28	chr1:150240934..150241485-chr14:24682246..24682842,2	Hela-S3	cervix:
29	chr14:24663072..24666624-chr14:24679241..24683731,7	K562	blood:
30	chr14:24681085..24682828-chr14:24772928..24775361,2	MCF-7	breast:
31	chr14:24581643..24583639-chr14:24682241..24684966,3	K562	blood:
32	chr14:24647373..24649581-chr14:24682421..24684138,2	MCF-7	breast:
33	chr14:24657528..24658605-chr14:24681964..24682912,4	HCT-116	colon:
34	chr14:24679583..24682789-chr14:24759113..24762719,3	K562	blood:
35	chr14:24582823..24585383-chr14:24679580..24684086,4	MCF-7	breast:
36	chr14:24682332..24685366-chr14:24686250..24689239,4	K562	blood:
37	chr14:24682408..24683240-chr14:24701149..24701695,2	MCF-7	breast:
38	chr14:24562071..24566278-chr14:24680757..24683932,6	K562	blood:
39	chr14:24681591..24684402-chr14:24776273..24778851,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSSK4-1	chr14:24681707-24683202	NONHSAT036011

No data

Variant related genes	Relation type
CHMP4A	TF binding region
TM9SF1	TF binding region
ENSG00000254692	TF binding region
ENSG00000265020	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000127948	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000259708	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000176624	Chromatin interaction
ENSG00000140403	Chromatin interaction
ENSG00000100908	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11629429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050103	0.97[GIH][hapmap];1.00[TSI][hapmap]
rs2295316	0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28372734	1.00[AMR][1000 genomes]
rs34655126	1.00[AMR][1000 genomes]
rs3759622	1.00[MEX][hapmap]
rs3783441	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41293836	1.00[AMR][1000 genomes]
rs4982867	1.00[MEX][hapmap]
rs4982873	0.85[ASN][1000 genomes]
rs743272	1.00[MEX][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24681400-24682800	Active TSS	Dnd41	blood
2	chr14:24681600-24682800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:24681600-24682800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:24681600-24682800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:24681600-24682800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:24681600-24682800	Active TSS	Fetal Brain Male	brain
7	chr14:24681600-24682800	Active TSS	Rectal Smooth Muscle	rectum
8	chr14:24681600-24682800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr14:24681600-24682800	Active TSS	A549	lung
10	chr14:24681600-24683000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:24681600-24683000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:24681600-24683000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:24681600-24683000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:24681600-24683000	Active TSS	Esophagus	oesophagus
15	chr14:24681600-24683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:24681600-24683200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr14:24681800-24682800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:24681800-24682800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:24681800-24682800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:24681800-24682800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:24681800-24682800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:24681800-24682800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:24681800-24682800	Active TSS	Primary T cells from cord blood	blood
24	chr14:24681800-24682800	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr14:24681800-24682800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:24681800-24682800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:24681800-24682800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:24681800-24682800	Active TSS	Brain Angular Gyrus	brain
29	chr14:24681800-24682800	Active TSS	Brain Hippocampus Middle	brain
30	chr14:24681800-24682800	Active TSS	Colonic Mucosa	Colon
31	chr14:24681800-24682800	Active TSS	Fetal Stomach	stomach
32	chr14:24681800-24682800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr14:24681800-24682800	Active TSS	HSMM	muscle
34	chr14:24681800-24683000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:24681800-24683000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:24681800-24683000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:24681800-24683000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:24681800-24683000	Active TSS	Colon Smooth Muscle	Colon
39	chr14:24681800-24683000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr14:24681800-24683200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:24681800-24683200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:24681800-24683200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:24681800-24683200	Active TSS	Psoas Muscle	Psoas
44	chr14:24681800-24683200	Active TSS	Right Ventricle	heart
45	chr14:24681800-24683600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr14:24682000-24682800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:24682000-24682800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:24682000-24682800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:24682000-24682800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:24682000-24682800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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