Variant report

Variant	rs17408590
Chromosome Location	chr1:165567153-165567154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:165567134-165567870	H1-hESC	embryonic stem cell:	n/a	chr1:165567154-165567162 chr1:165567152-165567163 chr1:165567153-165567163
2	MAX	chr1:165567102-165568043	A549	lung:	n/a	n/a
3	CBX3	chr1:165567101-165568025	K562	blood:	n/a	n/a
4	MYC	chr1:165567037-165567707	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr1:165566947-165567925	Hela-S3	cervix:	n/a	chr1:165567421-165567436 chr1:165567420-165567437 chr1:165567429-165567437 chr1:165567421-165567436 chr1:165567385-165567399 chr1:165567421-165567436
6	EGR1	chr1:165567128-165567807	MCF-7	breast:	n/a	chr1:165567590-165567600
7	TBL1XR1	chr1:165566991-165567785	K562	blood:	n/a	n/a
8	RCOR1	chr1:165567128-165568031	GM12878	blood:	n/a	n/a
9	SP1	chr1:165567127-165567902	A549	lung:	n/a	chr1:165567590-165567602 chr1:165567590-165567602 chr1:165567592-165567601 chr1:165567587-165567601 chr1:165567590-165567601 chr1:165567591-165567601 chr1:165567591-165567600
10	CHD2	chr1:165567147-165567838	Hela-S3	cervix:	n/a	n/a
11	EGR1	chr1:165567151-165567742	ECC-1	luminal epithelium:	n/a	chr1:165567590-165567600
12	RFX5	chr1:165566869-165568681	SK-N-SH	brain:	n/a	chr1:165567421-165567436 chr1:165567420-165567437 chr1:165567429-165567437 chr1:165567421-165567436 chr1:165567385-165567399 chr1:165567421-165567436
13	FOSL2	chr1:165567042-165567499	A549	lung:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
14	MAX	chr1:165567076-165568090	A549	lung:	n/a	n/a
15	FOS	chr1:165566805-165567914	HUVEC	blood vessel:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
16	FOS	chr1:165567015-165567627	MCF10A-Er-Src	breast:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
17	MAFK	chr1:165566988-165567856	K562	blood:	n/a	n/a
18	STAT3	chr1:165567022-165567924	MCF10A-Er-Src	breast:	n/a	chr1:165567554-165567566
19	TEAD4	chr1:165567138-165568091	K562	blood:	n/a	n/a
20	MXI1	chr1:165566515-165568300	SK-N-SH	brain:	n/a	chr1:165567420-165567435 chr1:165567422-165567437
21	RCOR1	chr1:165567071-165567757	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr1:165567020-165567863	MCF10A-Er-Src	breast:	n/a	chr1:165567554-165567566
23	MAX	chr1:165567129-165567990	HepG2	liver:	n/a	n/a
24	MAFK	chr1:165567065-165567959	Hela-S3	cervix:	n/a	n/a
25	USF2	chr1:165567084-165567284	Hela-S3	cervix:	n/a	n/a
26	NFYA	chr1:165566929-165567927	Hela-S3	cervix:	n/a	chr1:165567540-165567558 chr1:165567542-165567552
27	PML	chr1:165566945-165567999	GM12878	blood:	n/a	n/a
28	ZMIZ1	chr1:165566834-165567876	K562	blood:	n/a	n/a
29	FOSL2	chr1:165567117-165567404	A549	lung:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
30	SP1	chr1:165566978-165568030	HCT-116	colon:	n/a	chr1:165567590-165567602 chr1:165567590-165567602 chr1:165567592-165567601 chr1:165567587-165567601 chr1:165567590-165567601 chr1:165567591-165567601 chr1:165567591-165567600
31	POLR2A	chr1:165567143-165567838	MCF10A-Er-Src	breast:	n/a	n/a
32	FOSL2	chr1:165566932-165567728	SK-N-SH	brain:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
33	TAF1	chr1:165567116-165567838	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr1:165566942-165568181	HCT-116	colon:	n/a	chr1:165567590-165567602 chr1:165567590-165567602 chr1:165567592-165567601 chr1:165567587-165567601 chr1:165567590-165567601 chr1:165567591-165567601 chr1:165567591-165567600
35	SPI1	chr1:165566666-165567800	HL-60	blood:	n/a	chr1:165566676-165566689 chr1:165567093-165567102
36	E2F6	chr1:165566996-165568072	A549	lung:	n/a	n/a
37	POLR2A	chr1:165567010-165567891	SK-N-SH	brain:	n/a	n/a
38	MAZ	chr1:165567097-165567943	GM12878	blood:	n/a	n/a
39	GABPA	chr1:165567084-165567880	SK-N-SH	brain:	n/a	n/a
40	SMARCC1	chr1:165567102-165567896	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:165567087-165567972	SK-N-MC	brain:	n/a	n/a
42	JUND	chr1:165567077-165568164	K562	blood:	n/a	chr1:165567154-165567162 chr1:165567152-165567163 chr1:165567153-165567163
43	TBL1XR1	chr1:165567147-165567912	GM12878	blood:	n/a	n/a
44	MAX	chr1:165567135-165568071	K562	blood:	n/a	n/a
45	HA-E2F1	chr1:165567140-165567891	MCF-7	breast:	n/a	n/a
46	FOS	chr1:165567017-165567707	MCF10A-Er-Src	breast:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
47	STAT3	chr1:165567013-165567909	MCF10A-Er-Src	breast:	n/a	chr1:165567554-165567566
48	HDAC2	chr1:165567116-165568036	MCF-7	breast:	n/a	n/a
49	FOSL1	chr1:165566844-165567865	HCT-116	colon:	n/a	chr1:165567154-165567162 chr1:165567153-165567163
50	POLR2A	chr1:165567143-165567798	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGST3-1	chr1:165567006-165569013	NONHSAT007321

Variant related genes	Relation type
ENSG00000236206	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17448848	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429902	chr1:165531342-165574342	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165566600-165567200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:165566600-165567200	Bivalent Enhancer	Fetal Thymus	thymus
3	chr1:165566600-165567200	Flanking Active TSS	HMEC	breast
4	chr1:165566600-165567200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
5	chr1:165566600-165567400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:165566600-165567800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:165566600-165568000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:165566600-165568000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:165566800-165567200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:165566800-165567200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:165566800-165567200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:165566800-165567200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:165566800-165567200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:165566800-165567200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:165566800-165567200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:165566800-165567200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr1:165566800-165567200	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr1:165566800-165567200	Enhancers	Fetal Heart	heart
19	chr1:165566800-165567200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:165566800-165567200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:165566800-165567200	Enhancers	Stomach Mucosa	stomach
22	chr1:165566800-165567200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr1:165566800-165567200	Enhancers	Spleen	Spleen
24	chr1:165566800-165567200	Flanking Active TSS	Hela-S3	cervix
25	chr1:165566800-165567200	Flanking Active TSS	HSMMtube	muscle
26	chr1:165566800-165567400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
27	chr1:165566800-165567800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:165566800-165568000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:165566800-165568000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr1:165566800-165568000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:165566800-165568000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:165566800-165568000	Active TSS	Colonic Mucosa	Colon
33	chr1:165566800-165568000	Active TSS	Fetal Brain Male	brain
34	chr1:165566800-165568200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:165566800-165568200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr1:165566800-165568200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:165566800-165568200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr1:165566800-165568200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:165566800-165568200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr1:165566800-165568200	Flanking Active TSS	Dnd41	blood
41	chr1:165566800-165568200	Flanking Active TSS	K562	blood
42	chr1:165566800-165568600	Active TSS	Brain Germinal Matrix	brain
43	chr1:165567000-165567200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:165567000-165567200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:165567000-165567200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:165567000-165567200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:165567000-165567200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:165567000-165567200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:165567000-165567200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:165567000-165567200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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