Variant report

Variant	rs74132215
Chromosome Location	chr1:185286223-185286224
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	E2F6	chr1:185286030-185287453	K562	blood:	n/a	chr1:185286665-185286672
2	CHD1	chr1:185285184-185286331	H1-hESC	embryonic stem cell:	n/a	chr1:185285458-185285468
3	POLR2A	chr1:185285134-185286978	Gliobla	brain:	n/a	n/a
4	MYC	chr1:185285084-185287571	K562	blood:	n/a	chr1:185287381-185287390 chr1:185287335-185287343 chr1:185286533-185286543 chr1:185287382-185287389 chr1:185287380-185287391 chr1:185285689-185285699
5	CHD1	chr1:185282947-185287199	IMR90	lung:	n/a	chr1:185285458-185285468 chr1:185286665-185286672
6	CTCF	chr1:185286120-185286270	AG04449	skin:	n/a	n/a
7	E2F6	chr1:185285983-185287000	A549	lung:	n/a	chr1:185286665-185286672
8	CTCF	chr1:185286160-185286310	SAEC	small airway:	n/a	n/a
9	CREB1	chr1:185286078-185287060	K562	blood:	n/a	n/a
10	ELK1	chr1:185286205-185287395	GM12878	blood:	n/a	n/a
11	CHD2	chr1:185285087-185287351	Hela-S3	cervix:	n/a	chr1:185285458-185285468 chr1:185286665-185286672
12	TAF1	chr1:185286187-185286501	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:185284833-185287436	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:185285178-185287468	GM18505	blood:	n/a	n/a
15	REST	chr1:185286134-185286519	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr1:185285174-185286872	ECC-1	luminal epithelium:	n/a	n/a
17	FOXP2	chr1:185286106-185286567	SK-N-MC	brain:	n/a	n/a
18	CHD2	chr1:185286072-185286751	HepG2	liver:	n/a	chr1:185286665-185286672
19	EP300	chr1:185285852-185287071	MCF-7	breast:	n/a	chr1:185285935-185285944 chr1:185286632-185286648 chr1:185285938-185285947
20	EP300	chr1:185286163-185287439	K562	blood:	n/a	chr1:185286632-185286648
21	POLR2A	chr1:185285902-185286501	HepG2	liver:	n/a	n/a
22	NFYA	chr1:185286106-185286682	K562	blood:	n/a	n/a
23	CTCF	chr1:185286182-185286327	GM12892	blood:	n/a	n/a
24	TBL1XR1	chr1:185285650-185287501	GM12878	blood:	n/a	n/a
25	NR2F2	chr1:185286067-185287385	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:185286140-185286290	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr1:185286100-185286250	NHLF	lung:	n/a	n/a
28	USF1	chr1:185286167-185286541	SK-N-SH	brain:	n/a	n/a
29	BRCA1	chr1:185286160-185287516	Hela-S3	cervix:	n/a	n/a
30	HMGN3	chr1:185285227-185286900	K562	blood:	n/a	n/a
31	SIN3AK20	chr1:185285959-185286485	PFSK-1	brain:	n/a	n/a
32	KAT2A	chr1:185286193-185286387	GM12878	blood:	n/a	n/a
33	MAX	chr1:185284902-185287564	GM12878	blood:	n/a	chr1:185287381-185287390 chr1:185287335-185287343 chr1:185286533-185286543 chr1:185287382-185287389 chr1:185287380-185287391 chr1:185285689-185285699
34	PML	chr1:185284994-185287300	K562	blood:	n/a	n/a
35	TBP	chr1:185285983-185287467	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:185284732-185287410	Hela-S3	cervix:	n/a	n/a
37	MAX	chr1:185285079-185287135	ECC-1	luminal epithelium:	n/a	chr1:185286533-185286543 chr1:185285689-185285699
38	CTCF	chr1:185286100-185286250	HRPEpiC	eye:	n/a	n/a
39	YY1	chr1:185286133-185286532	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr1:185285240-185286928	HUVEC	blood vessel:	n/a	n/a
41	MTA3	chr1:185285867-185286458	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:185286098-185286478	U87	brain:	n/a	n/a
43	POLR2A	chr1:185285231-185286907	A549	lung:	n/a	n/a
44	PAX5	chr1:185286174-185286479	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:185285168-185286944	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr1:185285168-185287128	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:185285185-185286952	HUVEC	blood vessel:	n/a	n/a
48	UBTF	chr1:185285425-185286838	K562	blood:	n/a	n/a
49	POLR2A	chr1:185286174-185286901	HepG2	liver:	n/a	n/a
50	GABPA	chr1:185285950-185287412	MCF-7	breast:	n/a	chr1:185286534-185286543

No.	Distal block	Cell Line	Cell type
1	chr1:185285853..185286793-chr6:27782269..27782920,2	Hela-S3	cervix:
2	chr1:185285906..185286473-chr10:105127377..105128039,2	Hela-S3	cervix:
3	chr1:185284226..185288398-chr1:185298111..185303024,8	MCF-7	breast:
4	chr1:185285945..185287473-chr15:65596007..65597547,2	MCF-7	breast:
5	chr1:185285397..185289190-chr1:185299692..185306897,6	K562	blood:
6	chr1:185124212..185127675-chr1:185284433..185287801,3	K562	blood:
7	chr1:185285955..185287242-chr11:62609120..62609646,3	NB4	blood:
8	chr1:185284633..185286248-chr1:185503130..185504744,2	K562	blood:
9	chr1:185285773..185286460-chr11:62572805..62573374,2	Hela-S3	cervix:
10	chr1:160313180..160313685-chr1:185285966..185286871,2	Hela-S3	cervix:
11	chr1:109289222..109289819-chr1:185285930..185286593,2	Hela-S3	cervix:
12	chr1:185285890..185286555-chr19:55918688..55919418,2	HCT-116	colon:
13	chr1:185285911..185286462-chr3:128399282..128400081,2	Hela-S3	cervix:
14	chr1:185285631..185286431-chr5:109025047..109025607,2	Hela-S3	cervix:
15	chr1:185124982..185126735-chr1:185285285..185287316,2	MCF-7	breast:
16	chr1:185285966..185286665-chr14:75744835..75745693,2	Hela-S3	cervix:
17	chr1:184942889..184944424-chr1:185285470..185287949,2	K562	blood:
18	chr1:185014725..185016444-chr1:185285813..185288103,2	K562	blood:
19	chr1:185225715..185228034-chr1:185284675..185287044,2	MCF-7	breast:
20	chr1:185285856..185286842-chr4:83294679..83295499,2	Hela-S3	cervix:
21	chr1:185124212..185128355-chr1:185283797..185287901,7	K562	blood:
22	chr1:185275841..185277967-chr1:185284671..185287123,3	MCF-7	breast:
23	chr1:185284885..185287425-chr6:26197449..26199086,2	MCF-7	breast:
24	chr1:185125770..185127987-chr1:185284886..185287172,2	MCF-7	breast:
25	chr1:185285906..185286789-chr3:52312161..52313015,2	Hela-S3	cervix:
26	chr1:185284868..185287511-chr1:185534304..185536690,2	MCF-7	breast:
27	chr1:185284143..185286324-chr1:185309685..185311260,2	K562	blood:

Variant related genes	Relation type
ENSG00000273004	TF binding region
ENSG00000163902	Chromatin interaction
ENSG00000162736	Chromatin interaction
ENSG00000135842	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000272677	Chromatin interaction
ENSG00000116266	Chromatin interaction
ENSG00000122218	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000121481	Chromatin interaction
ENSG00000121486	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000228309	Chromatin interaction
ENSG00000261024	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000116668	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000138668	Chromatin interaction
ENSG00000206640	Chromatin interaction
ENSG00000148835	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000112893	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10911689	1.00[AMR][1000 genomes]
rs10911691	1.00[AMR][1000 genomes]
rs12064379	1.00[AMR][1000 genomes]
rs12072067	1.00[AMR][1000 genomes]
rs12074509	1.00[AMR][1000 genomes]
rs12076354	1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs55940524	1.00[AMR][1000 genomes]
rs56094240	1.00[AMR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58677790	1.00[AMR][1000 genomes]
rs59295359	1.00[AMR][1000 genomes]
rs60373073	1.00[AMR][1000 genomes]
rs60920626	0.89[AFR][1000 genomes]
rs74132214	0.89[AFR][1000 genomes]
rs74132217	1.00[AMR][1000 genomes]
rs74132289	1.00[AMR][1000 genomes]
rs74132300	1.00[AMR][1000 genomes]
rs74132493	1.00[AMR][1000 genomes]
rs74132494	1.00[AMR][1000 genomes]
rs74132495	1.00[AMR][1000 genomes]
rs74132499	1.00[AMR][1000 genomes]
rs74134440	1.00[AMR][1000 genomes]
rs74135005	1.00[AMR][1000 genomes]
rs74135006	1.00[AMR][1000 genomes]
rs74135007	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185281800-185286800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:185281800-185286800	Active TSS	HMEC	breast
3	chr1:185282200-185287200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:185282400-185287000	Active TSS	Placenta Amnion	Placenta Amnion
5	chr1:185282400-185287400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:185282600-185287000	Active TSS	Fetal Kidney	kidney
7	chr1:185282600-185287200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:185282600-185287200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:185282600-185287400	Active TSS	Psoas Muscle	Psoas
10	chr1:185282800-185286600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:185282800-185286800	Active TSS	Fetal Intestine Small	intestine
12	chr1:185282800-185287200	Active TSS	Fetal Heart	heart
13	chr1:185282800-185287200	Active TSS	HSMMtube	muscle
14	chr1:185283000-185286800	Active TSS	Primary T cells fromperipheralblood	blood
15	chr1:185283000-185287200	Active TSS	Left Ventricle	heart
16	chr1:185283200-185286600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:185283200-185287600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:185283400-185286600	Active TSS	Fetal Brain Male	brain
19	chr1:185283400-185287000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:185283400-185287000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:185283400-185287400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:185283400-185287400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:185283600-185286800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:185283600-185286800	Active TSS	Colonic Mucosa	Colon
25	chr1:185283600-185286800	Active TSS	Placenta	Placenta
26	chr1:185283600-185287400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:185283800-185286800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:185283800-185286800	Active TSS	Fetal Muscle Leg	muscle
29	chr1:185283800-185286800	Active TSS	Fetal Thymus	thymus
30	chr1:185283800-185286800	Active TSS	NHEK	skin
31	chr1:185283800-185287000	Active TSS	Ovary	ovary
32	chr1:185283800-185287000	Active TSS	Right Ventricle	heart
33	chr1:185283800-185287200	Active TSS	HSMM	muscle
34	chr1:185283800-185287400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr1:185283800-185287600	Active TSS	Thymus	Thymus
36	chr1:185284000-185286800	Active TSS	Fetal Intestine Large	intestine
37	chr1:185284000-185286800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:185284000-185286800	Active TSS	A549	lung
39	chr1:185284000-185286800	Active TSS	GM12878-XiMat	blood
40	chr1:185284000-185287000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:185284000-185287200	Active TSS	Brain Anterior Caudate	brain
42	chr1:185284200-185286800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr1:185284200-185287000	Active TSS	NHLF	lung
44	chr1:185284200-185287200	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr1:185284400-185286800	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:185284400-185287400	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:185284600-185286400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:185284600-185286600	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:185284600-185286600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:185284600-185286600	Active TSS	Fetal Muscle Trunk	muscle

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