Variant report

Variant	rs17101962
Chromosome Location	chr14:24684770-24684771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:235)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:235 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:24684658-24685495	GM12878	blood:	n/a	n/a
2	GTF2F1	chr14:24684692-24685610	Hela-S3	cervix:	n/a	n/a
3	STAT1	chr14:24684736-24685530	GM12878	blood:	n/a	chr14:24685449-24685461 chr14:24685338-24685350
4	TCF7L2	chr14:24684710-24685472	HCT-116	colon:	n/a	n/a
5	ZKSCAN1	chr14:24684728-24685500	Hela-S3	cervix:	n/a	n/a
6	YY1	chr14:24684600-24685515	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:24684643-24685654	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr14:24684587-24685608	GM12892	blood:	n/a	n/a
9	MAX	chr14:24684716-24685566	NB4	blood:	n/a	n/a
10	CREB1	chr14:24684717-24685586	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:24684722-24685462	K562	blood:	n/a	n/a
12	GABPA	chr14:24684597-24685621	MCF-7	breast:	n/a	n/a
13	RUNX3	chr14:24684638-24685638	GM12878	blood:	n/a	n/a
14	NFIC	chr14:24684612-24685484	GM12878	blood:	n/a	chr14:24685409-24685437 chr14:24684651-24684679
15	BCL3	chr14:24684513-24685753	A549	lung:	n/a	n/a
16	POLR2A	chr14:24684640-24685544	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:24684602-24685501	GM12878	blood:	n/a	n/a
18	SIN3A	chr14:24684601-24685528	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:24684598-24686189	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr14:24684655-24685670	HCT-116	colon:	n/a	n/a
21	ZEB1	chr14:24684660-24685322	GM12878	blood:	n/a	n/a
22	MAX	chr14:24684658-24685545	GM12878	blood:	n/a	n/a
23	PML	chr14:24684481-24685810	GM12878	blood:	n/a	n/a
24	MXI1	chr14:24684757-24685546	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFIC	chr14:24684499-24685621	HepG2	liver:	n/a	chr14:24685409-24685437 chr14:24684651-24684679
26	POLR2A	chr14:24684719-24685796	PBDE	blood:	n/a	n/a
27	TBP	chr14:24684715-24685456	Hela-S3	cervix:	n/a	n/a
28	RELA	chr14:24684712-24685502	GM18951	blood:	n/a	n/a
29	POU2F2	chr14:24684614-24685500	GM12878	blood:	n/a	chr14:24684643-24684654 chr14:24684642-24684656 chr14:24684640-24684658 chr14:24684638-24684660 chr14:24684644-24684654
30	MAX	chr14:24684752-24685524	HepG2	liver:	n/a	n/a
31	MAX	chr14:24684728-24685511	Hela-S3	cervix:	n/a	n/a
32	YY1	chr14:24684757-24685518	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:24684631-24685621	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr14:24684630-24685775	Hela-S3	cervix:	n/a	n/a
35	TBP	chr14:24684676-24685427	K562	blood:	n/a	n/a
36	POLR2A	chr14:24684724-24685509	HepG2	liver:	n/a	n/a
37	HEY1	chr14:24684493-24685740	HepG2	liver:	n/a	n/a
38	MYBL2	chr14:24684487-24685932	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:24684554-24685746	HL-60	blood:	n/a	n/a
40	SMC3	chr14:24684713-24685539	Hela-S3	cervix:	n/a	chr14:24685323-24685337
41	NFATC1	chr14:24684580-24685605	GM12878	blood:	n/a	n/a
42	GABPA	chr14:24684638-24685662	MCF-7	breast:	n/a	n/a
43	ELF1	chr14:24684625-24685710	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:24684416-24686030	H1-hESC	embryonic stem cell:	n/a	n/a
45	PML	chr14:24684603-24685003	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:24684582-24686101	HepG2	liver:	n/a	n/a
47	MXI1	chr14:24684470-24685906	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr14:24684608-24685816	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr14:24684594-24685615	H1-hESC	embryonic stem cell:	n/a	n/a
50	MBD4	chr14:24684493-24685948	HepG2	liver:	n/a	n/a

No data

(count:24 , 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	chr14:24684749..24686832-chr14:50581728..50584528,2	MCF-7	breast:
4	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
5	chr14:24682923..24685133-chr14:24776691..24778395,2	MCF-7	breast:
6	chr14:24682906..24687740-chr14:24707883..24712855,6	K562	blood:
7	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
8	chr14:24683967..24686751-chr14:24798225..24800322,2	MCF-7	breast:
9	chr14:24582139..24585680-chr14:24681172..24684966,4	K562	blood:
10	chr14:24682382..24684800-chr14:24800505..24802328,2	K562	blood:
11	chr14:24681602..24685045-chr14:24898549..24902277,4	MCF-7	breast:
12	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
13	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
14	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
15	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
16	chr14:24683639..24685254-chr14:24901523..24903604,3	MCF-7	breast:
17	chr14:24682802..24685207-chr14:24711355..24714494,4	K562	blood:
18	chr14:24656637..24660595-chr14:24683855..24686255,4	K562	blood:
19	chr14:24581643..24583639-chr14:24682241..24684966,3	K562	blood:
20	chr14:24618673..24621227-chr14:24682825..24685142,2	K562	blood:
21	chr14:24567915..24570074-chr14:24684734..24686679,2	K562	blood:
22	chr14:24682332..24685366-chr14:24686250..24689239,4	K562	blood:
23	chr14:24683518..24685322-chr14:24738872..24741925,4	K562	blood:
24	chr12:57480017..57482545-chr14:24683866..24686216,2	MCF-7	breast:

No data

Variant related genes	Relation type
TM9SF1	TF binding region
ENSG00000254692	TF binding region
CHMP4A	TF binding region
ENSG00000100889	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000259529	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000100483	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100911	Chromatin interaction

rs_ID	r²[population]
rs10132601	1.00[CHB][hapmap]
rs11574512	1.00[CHB][hapmap]
rs11622481	1.00[CHB][hapmap]
rs17101262	1.00[CHB][hapmap]
rs2144489	1.00[CHB][hapmap]
rs2144490	1.00[CHB][hapmap]
rs2229464	1.00[CHB][hapmap]
rs2229660	1.00[CHB][hapmap]
rs2516564	1.00[CHB][hapmap]
rs2855009	1.00[CHB][hapmap]
rs4981500	1.00[CHB][hapmap]
rs7146599	1.00[CHB][hapmap]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24683400-24684800	Weak transcription	Small Intestine	intestine
2	chr14:24683600-24685400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:24683800-24685600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr14:24684000-24684800	Weak transcription	Gastric	stomach
5	chr14:24684000-24684800	Weak transcription	Spleen	Spleen
6	chr14:24684000-24685400	Active TSS	Brain Germinal Matrix	brain
7	chr14:24684200-24685400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:24684200-24685400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:24684200-24685400	Active TSS	Brain Cingulate Gyrus	brain
10	chr14:24684200-24685400	Active TSS	K562	blood
11	chr14:24684200-24685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr14:24684200-24685600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr14:24684400-24684800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:24684400-24684800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:24684400-24684800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr14:24684400-24684800	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr14:24684400-24684800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:24684400-24684800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr14:24684400-24684800	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr14:24684400-24684800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr14:24684400-24684800	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr14:24684400-24684800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr14:24684400-24684800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr14:24684400-24684800	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr14:24684400-24684800	Flanking Active TSS	Fetal Stomach	stomach
26	chr14:24684400-24684800	Flanking Active TSS	Fetal Thymus	thymus
27	chr14:24684400-24684800	Active TSS	Right Atrium	heart
28	chr14:24684400-24684800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr14:24684400-24684800	Flanking Active TSS	Thymus	Thymus
30	chr14:24684400-24684800	Flanking Active TSS	GM12878-XiMat	blood
31	chr14:24684400-24684800	Flanking Active TSS	Hela-S3	cervix
32	chr14:24684400-24685000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr14:24684400-24685000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr14:24684400-24685000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr14:24684400-24685000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr14:24684400-24685000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr14:24684400-24685000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:24684400-24685000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr14:24684400-24685200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:24684400-24685200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:24684400-24685200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:24684400-24685400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:24684400-24685400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:24684400-24685400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:24684400-24685400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:24684400-24685400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr14:24684400-24685400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:24684400-24685400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:24684400-24685400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr14:24684400-24685400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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