Variant report

Variant	rs186778736
Chromosome Location	chr1:172420290-172420291
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	EP300	chr1:172420164-172420607	HepG2	liver:	n/a	chr1:172420565-172420575
2	GATA3	chr1:172419512-172420777	MCF-7	breast:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
3	FOXA2	chr1:172420234-172420685	HepG2	liver:	n/a	chr1:172420470-172420482
4	FOSL2	chr1:172420199-172420571	HepG2	liver:	n/a	chr1:172420224-172420234 chr1:172420447-172420455 chr1:172420224-172420234 chr1:172420224-172420234 chr1:172420445-172420457 chr1:172420224-172420234
5	SMC3	chr1:172419983-172420501	HepG2	liver:	n/a	n/a
6	MAZ	chr1:172419919-172420582	K562	blood:	n/a	chr1:172420446-172420455
7	MAZ	chr1:172419983-172420712	IMR90	lung:	n/a	chr1:172420446-172420455 chr1:172420649-172420658
8	KAP1	chr1:172418771-172420713	HEK293	kidney:	n/a	chr1:172420445-172420454
9	NR2F2	chr1:172418858-172420695	K562	blood:	n/a	n/a
10	GATA3	chr1:172420133-172420771	SK-N-SH	brain:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
11	SP1	chr1:172420134-172420664	A549	lung:	n/a	n/a
12	NR2F2	chr1:172420123-172420619	MCF-7	breast:	n/a	n/a
13	JUND	chr1:172420266-172420662	Hela-S3	cervix:	n/a	chr1:172420447-172420455 chr1:172420614-172420626 chr1:172420445-172420456 chr1:172420445-172420457
14	POLR2A	chr1:172418279-172420393	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:172420022-172420602	K562	blood:	n/a	n/a
16	TEAD4	chr1:172420194-172420709	HepG2	liver:	n/a	n/a
17	TCF7L2	chr1:172420165-172420608	PANC-1	pancreas:	n/a	chr1:172420414-172420428 chr1:172420417-172420426 chr1:172420413-172420429 chr1:172420416-172420425 chr1:172420413-172420429
18	EP300	chr1:172420271-172420653	Hela-S3	cervix:	n/a	chr1:172420565-172420575
19	FOS	chr1:172420227-172420620	HUVEC	blood vessel:	n/a	chr1:172420447-172420455 chr1:172420445-172420456 chr1:172420445-172420457
20	HDAC2	chr1:172420246-172420558	HepG2	liver:	n/a	n/a
21	TBL1XR1	chr1:172420112-172420608	K562	blood:	n/a	n/a
22	RCOR1	chr1:172420269-172420529	Hela-S3	cervix:	n/a	n/a
23	FOXA1	chr1:172420162-172420768	HepG2	liver:	n/a	chr1:172420470-172420482 chr1:172420560-172420575
24	EP300	chr1:172420068-172420688	A549	lung:	n/a	chr1:172420565-172420575
25	CTCF	chr1:172420180-172420330	HMEC	breast:	n/a	chr1:172420251-172420259
26	FOXA2	chr1:172420211-172420810	A549	lung:	n/a	chr1:172420470-172420482
27	IRF1	chr1:172420207-172420603	K562	blood:	n/a	chr1:172420567-172420581 chr1:172420446-172420455
28	MYBL2	chr1:172420232-172420651	HepG2	liver:	n/a	n/a
29	REST	chr1:172420182-172420680	A549	lung:	n/a	n/a
30	FOXA2	chr1:172420221-172420954	A549	lung:	n/a	chr1:172420470-172420482
31	SP1	chr1:172420024-172420693	A549	lung:	n/a	n/a
32	GATA3	chr1:172419643-172420603	MCF-7	breast:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
33	MAX	chr1:172418247-172420387	HepG2	liver:	n/a	n/a
34	GATA3	chr1:172420002-172420856	A549	lung:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
35	JUND	chr1:172420261-172420578	HepG2	liver:	n/a	chr1:172420447-172420455 chr1:172420445-172420456 chr1:172420445-172420457
36	JUND	chr1:172420084-172420745	MCF-7	breast:	n/a	chr1:172420224-172420234 chr1:172420447-172420455 chr1:172420224-172420234 chr1:172420614-172420626 chr1:172420445-172420456 chr1:172420224-172420234 chr1:172420445-172420457 chr1:172420224-172420234
37	MAZ	chr1:172418831-172420595	HepG2	liver:	n/a	chr1:172420446-172420455
38	CHD2	chr1:172420164-172420579	Hela-S3	cervix:	n/a	n/a
39	MYBL2	chr1:172420160-172420711	HepG2	liver:	n/a	n/a
40	NR2F2	chr1:172419483-172420685	MCF-7	breast:	n/a	n/a
41	CBX3	chr1:172419982-172420608	K562	blood:	n/a	n/a
42	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
43	JUND	chr1:172420187-172420596	A549	lung:	n/a	chr1:172420224-172420234 chr1:172420447-172420455 chr1:172420224-172420234 chr1:172420445-172420456 chr1:172420224-172420234 chr1:172420445-172420457 chr1:172420224-172420234
44	ZNF217	chr1:172419800-172420593	MCF-7	breast:	n/a	n/a
45	FOSL2	chr1:172420061-172420685	MCF-7	breast:	n/a	chr1:172420224-172420234 chr1:172420447-172420455 chr1:172420224-172420234 chr1:172420614-172420626 chr1:172420224-172420234 chr1:172420445-172420457 chr1:172420224-172420234
46	FOSL2	chr1:172420040-172420683	MCF-7	breast:	n/a	chr1:172420224-172420234 chr1:172420447-172420455 chr1:172420224-172420234 chr1:172420614-172420626 chr1:172420224-172420234 chr1:172420445-172420457 chr1:172420224-172420234
47	RCOR1	chr1:172419030-172420642	K562	blood:	n/a	n/a
48	JUND	chr1:172420275-172420597	HepG2	liver:	n/a	chr1:172420447-172420455 chr1:172420445-172420456 chr1:172420445-172420457
49	NFIC	chr1:172420209-172420707	HepG2	liver:	n/a	n/a
50	JUN	chr1:172420272-172420599	K562	blood:	n/a	chr1:172420447-172420455 chr1:172420445-172420457

No.	Distal block	Cell Line	Cell type
1	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
2	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
3	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
4	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	nsv947449	chr1:172419586-172424910	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:172416400-172420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:172416400-172420600	Enhancers	HMEC	breast
6	chr1:172417200-172420600	Enhancers	NHEK	skin
7	chr1:172417200-172421800	Weak transcription	Psoas Muscle	Psoas
8	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:172417600-172420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:172417800-172420600	Enhancers	Placenta	Placenta
11	chr1:172417800-172420600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:172417800-172420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:172417800-172420800	Enhancers	Fetal Kidney	kidney
14	chr1:172418000-172420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:172418000-172420400	Enhancers	Stomach Mucosa	stomach
16	chr1:172418000-172420800	Enhancers	HUVEC	blood vessel
17	chr1:172418000-172422200	Enhancers	NH-A	brain
18	chr1:172418400-172420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:172418400-172420600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:172418600-172420400	Enhancers	Esophagus	oesophagus
21	chr1:172418800-172420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:172418800-172420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:172418800-172420400	Enhancers	Left Ventricle	heart
24	chr1:172418800-172420600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:172419000-172420400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:172419000-172420400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:172419000-172420400	Enhancers	Pancreas	Pancrea
28	chr1:172419000-172420600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:172419000-172420600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:172419000-172420600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:172419000-172420600	Enhancers	Liver	Liver
32	chr1:172419000-172420600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:172419000-172420600	Enhancers	NHLF	lung
34	chr1:172419200-172420400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr1:172419200-172420400	Enhancers	Dnd41	blood
36	chr1:172419200-172420600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:172419200-172420800	Enhancers	Fetal Heart	heart
38	chr1:172419200-172420800	Enhancers	Osteobl	bone
39	chr1:172419400-172420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:172419400-172420400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:172419400-172420600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:172419400-172420600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:172419400-172422200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:172419600-172420400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:172419600-172420400	Enhancers	Fetal Muscle Leg	muscle
46	chr1:172419600-172420400	Enhancers	HSMMtube	muscle
47	chr1:172419600-172420600	Enhancers	Primary T cells from cord blood	blood
48	chr1:172419600-172421400	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:172419600-172421600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:172419600-172422000	Weak transcription	Right Ventricle	heart

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