Variant report

Variant	rs16837367
Chromosome Location	chr1:149911477-149911478
allele	C/T
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	FOS	chr1:149910941-149911616	K562	blood:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532 chr1:149911128-149911139
2	SMC3	chr1:149910891-149911555	Hela-S3	cervix:	n/a	n/a
3	MAX	chr1:149910953-149911572	H1-hESC	embryonic stem cell:	n/a	chr1:149911520-149911529 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911384-149911393
4	CHD2	chr1:149910877-149911562	Hela-S3	cervix:	n/a	n/a
5	SP1	chr1:149910752-149911727	HCT-116	colon:	n/a	chr1:149911100-149911114
6	ZNF217	chr1:149910839-149911603	MCF-7	breast:	n/a	n/a
7	JUN	chr1:149910925-149911569	H1-hESC	embryonic stem cell:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
8	CEBPB	chr1:149910900-149911537	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr1:149910839-149911633	ECC-1	luminal epithelium:	n/a	n/a
10	MAFF	chr1:149911052-149911520	K562	blood:	n/a	n/a
11	PML	chr1:149910937-149911545	GM12878	blood:	n/a	chr1:149911128-149911137 chr1:149911386-149911395
12	STAT3	chr1:149911004-149911535	MCF10A-Er-Src	breast:	n/a	chr1:149911385-149911394 chr1:149911384-149911393
13	POLR2A	chr1:149910887-149911600	HCT-116	colon:	n/a	n/a
14	STAT3	chr1:149910943-149911683	MCF10A-Er-Src	breast:	n/a	chr1:149911385-149911394 chr1:149911384-149911393
15	POLR2A	chr1:149910846-149911571	Hela-S3	cervix:	n/a	n/a
16	NR2F2	chr1:149910798-149911634	MCF-7	breast:	n/a	n/a
17	MYBL2	chr1:149910889-149911603	HepG2	liver:	n/a	n/a
18	TCF7L2	chr1:149910848-149911717	HCT-116	colon:	n/a	chr1:149911401-149911415 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911117-149911126
19	GABPA	chr1:149910845-149911621	MCF-7	breast:	n/a	n/a
20	JUN	chr1:149910872-149911576	K562	blood:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
21	JUND	chr1:149910773-149911651	SK-N-SH	brain:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
22	POLR2A	chr1:149910784-149911595	U87	brain:	n/a	n/a
23	POLR2A	chr1:149910807-149911477	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr1:149911093-149911647	A549	lung:	n/a	n/a
25	JUND	chr1:149910873-149911616	Hela-S3	cervix:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
26	CEBPB	chr1:149911032-149911477	IMR90	lung:	n/a	n/a
27	PML	chr1:149910846-149911623	MCF-7	breast:	n/a	chr1:149911128-149911137 chr1:149911386-149911395
28	JUND	chr1:149910995-149911548	H1-hESC	embryonic stem cell:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
29	MAFK	chr1:149910906-149911524	Hela-S3	cervix:	n/a	chr1:149911385-149911395 chr1:149910988-149911003
30	YY1	chr1:149911273-149911579	HCT-116	colon:	n/a	n/a
31	RXRA	chr1:149910857-149911645	SK-N-SH	brain:	n/a	chr1:149911385-149911394
32	POLR2A	chr1:149910672-149911628	MCF-7	breast:	n/a	n/a
33	SP1	chr1:149910937-149911634	H1-hESC	embryonic stem cell:	n/a	chr1:149911100-149911114
34	MAFK	chr1:149911013-149911499	K562	blood:	n/a	chr1:149911385-149911395
35	USF1	chr1:149910881-149911512	A549	lung:	n/a	n/a
36	GATA3	chr1:149910844-149911728	SK-N-SH	brain:	n/a	chr1:149911116-149911125 chr1:149911018-149911025
37	TFAP2A	chr1:149911004-149911593	Hela-S3	cervix:	n/a	chr1:149911129-149911138 chr1:149911385-149911394
38	SP1	chr1:149910669-149911715	A549	lung:	n/a	chr1:149911100-149911114
39	FOSL1	chr1:149910757-149911744	HCT-116	colon:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
40	PBX3	chr1:149910880-149911602	A549	lung:	n/a	n/a
41	FOSL2	chr1:149910796-149911661	HepG2	liver:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
42	POLR2A	chr1:149910790-149911510	U87	brain:	n/a	n/a
43	SP1	chr1:149910899-149911483	HepG2	liver:	n/a	chr1:149911100-149911114
44	ELF1	chr1:149910915-149911506	A549	lung:	n/a	n/a
45	FOS	chr1:149910925-149911707	MCF10A-Er-Src	breast:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532 chr1:149911128-149911139
46	ATF3	chr1:149910907-149911554	A549	lung:	n/a	n/a
47	CBX3	chr1:149910906-149911550	K562	blood:	n/a	n/a
48	MYC	chr1:149910945-149911606	MCF10A-Er-Src	breast:	n/a	chr1:149911520-149911529 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911384-149911393
49	JUN	chr1:149910916-149911593	K562	blood:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
50	EP300	chr1:149910851-149911692	A549	lung:	n/a	chr1:149911129-149911138 chr1:149911360-149911374 chr1:149911385-149911394

No.	Distal block	Cell Line	Cell type
1	chr1:149909572..149911574-chr12:77169108..77170909,2	MCF-7	breast:
2	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
3	chr1:149911189..149913982-chr1:150022742..150024271,2	MCF-7	breast:
4	chr1:149911144..149914271-chr1:149919148..149922451,3	K562	blood:
5	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
6	chr1:149813703..149815713-chr1:149909589..149912575,2	MCF-7	breast:
7	chr1:149909098..149913476-chr1:149978280..149982825,6	MCF-7	breast:
8	chr1:149820142..149822893-chr1:149910966..149912926,2	K562	blood:
9	chr1:149909612..149912880-chr1:149960948..149964772,4	MCF-7	breast:
10	chr1:149908458..149914088-chr1:149980717..149984285,8	MCF-7	breast:
11	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
12	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
13	chr1:149910983..149913297-chr1:150134824..150136527,2	K562	blood:
14	chr1:149909776..149912433-chr1:150001738..150003437,2	MCF-7	breast:
15	chr1:149909949..149911935-chr1:149937678..149940090,2	MCF-7	breast:

Variant related genes	Relation type
MTMR11	TF binding region
ENSG00000220323	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000203819	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12059874	1.00[MEX][hapmap]
rs1556934	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833048	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837054	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16837593	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838646	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56929499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57020352	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57182882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57513077	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58777569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59462540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709800	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694482	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700399	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004328	1.00[AMR][1000 genomes]
rs73004398	1.00[AMR][1000 genomes]
rs73004400	1.00[AMR][1000 genomes]
rs73006303	1.00[AMR][1000 genomes]
rs73006306	1.00[AMR][1000 genomes]
rs73006313	1.00[AMR][1000 genomes]
rs73006316	1.00[AMR][1000 genomes]
rs73006318	1.00[AMR][1000 genomes]
rs73006327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008191	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010113	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010186	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010189	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011904	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011906	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011909	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011910	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011913	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011930	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73016112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523560	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543861	0.87[AFR][1000 genomes];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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149906400-149912000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:149908600-149911600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr1:149908800-149912600	Weak transcription	Gastric	stomach
4	chr1:149909000-149911600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:149909000-149911800	Enhancers	Left Ventricle	heart
6	chr1:149909000-149912000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:149909000-149912000	Enhancers	Brain Angular Gyrus	brain
8	chr1:149909200-149911600	Enhancers	Fetal Stomach	stomach
9	chr1:149909200-149911800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:149909200-149911800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:149909200-149911800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:149909200-149911800	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:149909200-149915400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:149909200-149916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:149909400-149911600	Enhancers	Fetal Muscle Leg	muscle
16	chr1:149909400-149911800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:149909400-149912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:149909400-149915000	Weak transcription	Fetal Brain Female	brain
19	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
20	chr1:149909600-149911800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:149909600-149916400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:149909800-149913800	Weak transcription	Fetal Lung	lung
23	chr1:149909800-149916600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:149910000-149911600	Enhancers	GM12878-XiMat	blood
25	chr1:149910000-149912400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:149910000-149913800	Weak transcription	Fetal Kidney	kidney
27	chr1:149910000-149914400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:149910200-149911600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:149910200-149914800	Weak transcription	Thymus	Thymus
31	chr1:149910200-149914800	Weak transcription	Spleen	Spleen
32	chr1:149910200-149915800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:149910200-149915800	Weak transcription	Esophagus	oesophagus
34	chr1:149910200-149929800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:149910400-149911600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:149910400-149912200	Enhancers	Small Intestine	intestine
37	chr1:149910600-149911600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:149910600-149911600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:149910600-149911600	Enhancers	Brain Substantia Nigra	brain
40	chr1:149910600-149911600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr1:149910600-149911600	Enhancers	HSMMtube	muscle
42	chr1:149910600-149912000	Enhancers	Liver	Liver
43	chr1:149910600-149912200	Enhancers	Fetal Heart	heart
44	chr1:149910600-149914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:149910800-149911600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:149910800-149911600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:149910800-149911600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:149910800-149911600	Flanking Active TSS	K562	blood
49	chr1:149910800-149911600	Flanking Active TSS	NH-A	brain
50	chr1:149911000-149911600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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