Variant report

Variant	rs74124228
Chromosome Location	chr1:172501856-172501857
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	RFX5	chr1:172501202-172502449	HepG2	liver:	n/a	chr1:172501603-172501612
2	POLR2A	chr1:172501323-172502928	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:172501058-172503467	Hela-S3	cervix:	n/a	n/a
4	PML	chr1:172501150-172502826	K562	blood:	n/a	n/a
5	ELK1	chr1:172501342-172502200	GM12878	blood:	n/a	n/a
6	MYBL2	chr1:172501329-172502621	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:172500531-172503100	K562	blood:	n/a	n/a
8	EP300	chr1:172501393-172502047	A549	lung:	n/a	n/a
9	POLR2A	chr1:172501274-172501879	U87	brain:	n/a	n/a
10	POLR2A	chr1:172501130-172503044	PFSK-1	brain:	n/a	n/a
11	MAX	chr1:172501152-172502830	MCF-7	breast:	n/a	n/a
12	RFX5	chr1:172501226-172502286	K562	blood:	n/a	chr1:172501603-172501612
13	CHD2	chr1:172501176-172502803	K562	blood:	n/a	chr1:172502276-172502286
14	POLR2A	chr1:172501264-172501940	HUVEC	blood vessel:	n/a	n/a
15	TEAD4	chr1:172500605-172503401	K562	blood:	n/a	n/a
16	POLR2A	chr1:172500513-172503382	K562	blood:	n/a	n/a
17	NFYB	chr1:172501309-172502415	Hela-S3	cervix:	n/a	chr1:172501639-172501654 chr1:172502204-172502219 chr1:172501602-172501612 chr1:172501602-172501612 chr1:172502204-172502219
18	E2F6	chr1:172501841-172502423	K562	blood:	n/a	chr1:172502135-172502145 chr1:172502199-172502208 chr1:172502028-172502037 chr1:172502208-172502217 chr1:172502275-172502284
19	ETS1	chr1:172501359-172502054	A549	lung:	n/a	chr1:172502023-172502034 chr1:172501456-172501463
20	EP300	chr1:172501445-172501948	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:172501235-172501956	HepG2	liver:	n/a	n/a
22	GATA3	chr1:172501853-172502432	T-47D	breast:	n/a	n/a
23	POLR2A	chr1:172501247-172502720	PANC-1	pancreas:	n/a	n/a
24	YY1	chr1:172501790-172502745	HCT-116	colon:	n/a	chr1:172502194-172502208
25	SIX5	chr1:172501431-172502055	K562	blood:	n/a	n/a
26	HDAC2	chr1:172501169-172502748	MCF-7	breast:	n/a	n/a
27	FOS	chr1:172501637-172502273	HUVEC	blood vessel:	n/a	n/a
28	TAF1	chr1:172501150-172502719	SK-N-SH	brain:	n/a	n/a
29	MYC	chr1:172501148-172503223	NB4	blood:	n/a	n/a
30	POLR2A	chr1:172500590-172503489	GM12891	blood:	n/a	n/a
31	TAF1	chr1:172501310-172502746	ECC-1	luminal epithelium:	n/a	n/a
32	SP1	chr1:172501129-172502811	HCT-116	colon:	n/a	chr1:172502102-172502112 chr1:172502101-172502113 chr1:172502008-172502020 chr1:172502008-172502020 chr1:172502102-172502112 chr1:172502024-172502036 chr1:172502101-172502113
33	BRCA1	chr1:172501526-172502557	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:172501199-172503014	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:172501849-172502764	GM12891	blood:	n/a	n/a
36	HA-E2F1	chr1:172501745-172502646	Hela-S3	cervix:	n/a	chr1:172502135-172502145 chr1:172502199-172502208 chr1:172501919-172501930 chr1:172502028-172502037 chr1:172502208-172502217 chr1:172502275-172502284
37	ATF2	chr1:172501294-172502114	H1-hESC	embryonic stem cell:	n/a	n/a
38	SPI1	chr1:172501237-172502459	HL-60	blood:	n/a	n/a
39	REST	chr1:172500928-172503498	H1-neurons	neurons:	n/a	chr1:172502117-172502130
40	TCF7L2	chr1:172501444-172503125	HCT-116	colon:	n/a	n/a
41	MXI1	chr1:172501150-172502712	HepG2	liver:	n/a	n/a
42	WRNIP1	chr1:172501171-172503491	GM12878	blood:	n/a	n/a
43	TAF1	chr1:172501832-172502960	Hela-S3	cervix:	n/a	n/a
44	TBP	chr1:172501135-172503225	K562	blood:	n/a	n/a
45	EP300	chr1:172501330-172502650	GM12878	blood:	n/a	chr1:172502135-172502144
46	MAZ	chr1:172501209-172503393	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:172501197-172503363	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:172501041-172503049	K562	blood:	n/a	n/a
49	ELK1	chr1:172501327-172502792	Hela-S3	cervix:	n/a	n/a
50	ELF1	chr1:172501335-172502652	GM12878	blood:	n/a	chr1:172502019-172502031 chr1:172501949-172501960

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172501632..172502219-chr7:102715081..102715967,2	Hela-S3	cervix:
3	chr1:172501396..172504430-chr1:172536696..172538886,3	MCF-7	breast:
4	chr1:172501784..172502594-chr12:131356402..131357220,2	Hela-S3	cervix:
5	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
6	chr1:172501333..172501951-chr1:178062255..178063087,2	Hela-S3	cervix:
7	chr1:172499065..172502708-chr1:172575408..172578949,3	K562	blood:
8	chr1:172501641..172502182-chr19:47291460..47292007,2	NB4	blood:
9	chr1:172501451..172502066-chr9:140099995..140100584,2	Hela-S3	cervix:
10	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
11	chr1:172501235..172501944-chr1:212781826..212782697,2	Hela-S3	cervix:
12	chr1:172501724..172502320-chr7:91569572..91570465,2	Hela-S3	cervix:
13	chr1:172410326..172414934-chr1:172499314..172504781,7	K562	blood:
14	chr1:172411064..172415256-chr1:172501216..172504781,6	K562	blood:
15	chr1:172501712..172502368-chr17:56736016..56736733,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGC-4	chr1:172500900-172502606	NONHSAT007615

Variant related genes	Relation type
SUCO	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000075391	Chromatin interaction
ENSG00000135845	Chromatin interaction
ENSG00000105281	Chromatin interaction
ENSG00000224687	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000188566	Chromatin interaction
ENSG00000094975	Chromatin interaction
ENSG00000127914	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000132341	Chromatin interaction
ENSG00000187713	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2472551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2516063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55678532	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56884575	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57117081	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57600271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58481917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58899638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60345777	1.00[AMR][1000 genomes]
rs60485575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124244	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124248	1.00[AMR][1000 genomes]
rs74124250	1.00[AMR][1000 genomes]
rs74124251	1.00[AMR][1000 genomes]
rs74124253	1.00[AMR][1000 genomes]
rs74124255	1.00[AMR][1000 genomes]
rs74124256	1.00[AMR][1000 genomes]
rs74124257	1.00[AMR][1000 genomes]
rs74124258	1.00[AMR][1000 genomes]
rs74124260	1.00[AMR][1000 genomes]
rs74124262	1.00[AMR][1000 genomes]
rs74124263	1.00[AMR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172500400-172502400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:172500400-172504600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:172500600-172503200	Active TSS	Fetal Thymus	thymus
4	chr1:172500600-172503400	Active TSS	Thymus	Thymus
5	chr1:172500600-172503600	Active TSS	A549	lung
6	chr1:172500600-172503800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:172500600-172504200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:172500600-172504200	Active TSS	NHDF-Ad	bronchial
9	chr1:172500800-172502000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:172500800-172502200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:172500800-172502200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:172500800-172503000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:172500800-172503200	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr1:172500800-172503200	Active TSS	Fetal Muscle Leg	muscle
15	chr1:172500800-172503400	Active TSS	Primary T cells fromperipheralblood	blood
16	chr1:172500800-172503400	Active TSS	Aorta	Aorta
17	chr1:172500800-172503400	Active TSS	Colon Smooth Muscle	Colon
18	chr1:172500800-172503600	Active TSS	Colonic Mucosa	Colon
19	chr1:172500800-172503800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:172500800-172503800	Active TSS	Fetal Muscle Trunk	muscle
21	chr1:172500800-172504000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:172500800-172504000	Active TSS	Right Ventricle	heart
23	chr1:172500800-172504200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:172500800-172504200	Active TSS	Fetal Stomach	stomach
25	chr1:172500800-172504400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:172500800-172504400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:172500800-172504400	Active TSS	HMEC	breast
28	chr1:172500800-172504600	Active TSS	Fetal Brain Female	brain
29	chr1:172500800-172504800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:172501000-172502400	Active TSS	Brain Germinal Matrix	brain
31	chr1:172501000-172502800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:172501000-172502800	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:172501000-172502800	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:172501000-172503000	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:172501000-172503000	Active TSS	Psoas Muscle	Psoas
36	chr1:172501000-172503200	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr1:172501000-172503200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:172501000-172503200	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:172501000-172503200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:172501000-172503200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:172501000-172503200	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:172501000-172503200	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:172501000-172503200	Active TSS	HUVEC	blood vessel
44	chr1:172501000-172503400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:172501000-172503400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:172501000-172503400	Active TSS	Stomach Mucosa	stomach
47	chr1:172501000-172503600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:172501000-172503600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:172501000-172503600	Active TSS	Esophagus	oesophagus
50	chr1:172501000-172503600	Active TSS	Placenta	Placenta

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