Variant report

Variant	rs3737154
Chromosome Location	chr1:10459473-10459474
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	E2F4	chr1:10458399-10459698	K562	blood:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
2	POLR2A	chr1:10458690-10459738	HEK293	kidney:	n/a	n/a
3	YY1	chr1:10458459-10459736	K562	blood:	n/a	chr1:10459421-10459435 chr1:10459510-10459524 chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459500-10459511 chr1:10459351-10459365 chr1:10459533-10459547
4	MAX	chr1:10458509-10460111	MCF-7	breast:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
5	NR2F2	chr1:10458563-10459706	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:10458691-10459593	HCT-116	colon:	n/a	n/a
7	SP1	chr1:10458480-10459979	HCT-116	colon:	n/a	chr1:10459392-10459401 chr1:10459033-10459044 chr1:10459034-10459048 chr1:10459390-10459402 chr1:10459395-10459407 chr1:10459493-10459505 chr1:10459391-10459401 chr1:10458890-10458902 chr1:10458966-10458977 chr1:10459357-10459369 chr1:10459390-10459402 chr1:10459493-10459505 chr1:10459391-10459400 chr1:10459365-10459379 chr1:10459397-10459406 chr1:10459033-10459045 chr1:10459494-10459503 chr1:10459392-10459401 chr1:10459395-10459407 chr1:10459495-10459504 chr1:10459494-10459504 chr1:10459041-10459062 chr1:10458891-10458900 chr1:10459357-10459369
8	MYC	chr1:10459363-10459622	K562	blood:	n/a	chr1:10459494-10459504
9	POLR2A	chr1:10458446-10460055	A549	lung:	n/a	n/a
10	POLR2A	chr1:10458419-10460450	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:10458489-10460086	Hela-S3	cervix:	n/a	n/a
12	EP300	chr1:10458644-10459522	HepG2	liver:	n/a	chr1:10459058-10459067
13	GATA3	chr1:10458345-10459542	A549	lung:	n/a	n/a
14	ZNF143	chr1:10458481-10459476	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:10458462-10459742	H1-hESC	embryonic stem cell:	n/a	n/a
16	HMGN3	chr1:10458487-10459701	K562	blood:	n/a	n/a
17	MYC	chr1:10458510-10459636	H1-hESC	embryonic stem cell:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
18	POLR2A	chr1:10458582-10459852	Hela-S3	cervix:	n/a	n/a
19	E2F6	chr1:10458470-10459686	H1-hESC	embryonic stem cell:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
20	YY1	chr1:10458605-10459552	ECC-1	luminal epithelium:	n/a	chr1:10459421-10459435 chr1:10459510-10459524 chr1:10459357-10459371 chr1:10459198-10459209 chr1:10459500-10459511 chr1:10459351-10459365 chr1:10459533-10459547
21	EP300	chr1:10459294-10459670	T-47D	breast:	n/a	n/a
22	POLR2A	chr1:10458428-10459536	PFSK-1	brain:	n/a	n/a
23	CREB1	chr1:10458416-10459881	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:10458563-10459630	HCT-116	colon:	n/a	n/a
25	POLR2A	chr1:10458384-10460140	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:10458548-10459833	GM15510	blood:	n/a	n/a
27	TCF7L2	chr1:10458591-10459647	HCT-116	colon:	n/a	n/a
28	MAX	chr1:10458463-10459948	GM12878	blood:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
29	FOXA2	chr1:10458687-10459495	A549	lung:	n/a	n/a
30	BHLHE40	chr1:10458606-10459843	GM12878	blood:	n/a	chr1:10459357-10459373
31	GABPA	chr1:10458460-10459621	K562	blood:	n/a	chr1:10458891-10458900 chr1:10458546-10458555 chr1:10459220-10459229
32	POLR2A	chr1:10458588-10459575	HUVEC	blood vessel:	n/a	n/a
33	KAP1	chr1:10458396-10459846	HEK293	kidney:	n/a	n/a
34	MAX	chr1:10458419-10460051	HCT-116	colon:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
35	POLR2A	chr1:10458520-10459898	Raji	blood:	n/a	n/a
36	E2F6	chr1:10458476-10459930	K562	blood:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
37	MYC	chr1:10458429-10460396	K562	blood:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
38	TCF12	chr1:10458359-10459527	ECC-1	luminal epithelium:	n/a	n/a
39	ZNF263	chr1:10458603-10460004	HEK293-T-REx	kidney:	n/a	chr1:10459419-10459428
40	TAF1	chr1:10458918-10459499	H1-neurons	neurons:	n/a	n/a
41	SP1	chr1:10458475-10459563	A549	lung:	n/a	chr1:10459392-10459401 chr1:10459033-10459044 chr1:10459034-10459048 chr1:10459390-10459402 chr1:10459395-10459407 chr1:10459493-10459505 chr1:10459391-10459401 chr1:10458890-10458902 chr1:10458966-10458977 chr1:10459357-10459369 chr1:10459390-10459402 chr1:10459493-10459505 chr1:10459391-10459400 chr1:10459365-10459379 chr1:10459397-10459406 chr1:10459033-10459045 chr1:10459494-10459503 chr1:10459392-10459401 chr1:10459395-10459407 chr1:10459495-10459504 chr1:10459494-10459504 chr1:10459041-10459062 chr1:10458891-10458900 chr1:10459357-10459369
42	TCF3	chr1:10458508-10459623	GM12878	blood:	n/a	chr1:10459454-10459468
43	MAX	chr1:10458385-10460010	SK-N-SH	brain:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
44	JUN	chr1:10458103-10461141	K562	blood:	n/a	chr1:10459395-10459404 chr1:10460823-10460835
45	YY1	chr1:10458295-10459506	H1-hESC	embryonic stem cell:	n/a	chr1:10459421-10459435 chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459351-10459365
46	POLR2A	chr1:10458623-10460011	K562	blood:	n/a	n/a
47	CEBPD	chr1:10458664-10459625	HepG2	liver:	n/a	n/a
48	CTBP2	chr1:10458532-10459644	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr1:10458536-10459862	K562	blood:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
50	POLR2A	chr1:10458415-10459697	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:10457879..10460190-chr8:103875742..103877594,2	MCF-7	breast:
2	chr1:10457490..10461716-chr1:10469511..10473951,6	K562	blood:
3	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
4	chr1:10457843..10460253-chr1:10533493..10537083,3	MCF-7	breast:
5	chr1:10456887..10459867-chr1:10534957..10536960,2	K562	blood:
6	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
7	chr1:10457403..10461622-chr1:10531171..10536559,7	K562	blood:
8	chr1:10269636..10272138-chr1:10457591..10460138,4	K562	blood:
9	chr1:10458808..10459803-chr11:8710259..8711120,2	HCT-116	colon:
10	chr1:10457797..10461098-chr1:10474071..10478087,9	K562	blood:
11	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
12	chr1:9882661..9885013-chr1:10458252..10460185,2	K562	blood:
13	chr1:10269508..10272201-chr1:10459062..10462119,3	K562	blood:
14	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:
15	chr1:10001846..10004168-chr1:10458912..10460649,2	K562	blood:
16	chr1:10457794..10460664-chr1:10487844..10492697,5	K562	blood:
17	chr1:10457794..10461321-chr1:10487053..10491931,7	K562	blood:

Variant related genes	Relation type
PGD	TF binding region
ENSG00000166441	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000228150	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000054523	Chromatin interaction
ENSG00000265945	Chromatin interaction
ENSG00000173614	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000171603	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000251503	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10492970	0.93[AMR][1000 genomes]
rs17034591	0.87[AMR][1000 genomes]
rs17034601	1.00[AMR][1000 genomes]
rs17034615	0.88[AMR][1000 genomes]
rs17034616	1.00[AMR][1000 genomes]
rs17034627	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17034655	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034660	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034716	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034766	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034775	0.88[ASN][1000 genomes]
rs17034849	1.00[ASN][1000 genomes]
rs2297881	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3819096	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41258245	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41274480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57661717	1.00[AMR][1000 genomes]
rs57963032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59211028	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61508659	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72865913	0.88[AMR][1000 genomes]
rs72865916	1.00[AMR][1000 genomes]
rs72865925	0.93[AMR][1000 genomes]
rs72865926	0.88[AMR][1000 genomes]
rs72865927	1.00[AMR][1000 genomes]
rs72865941	1.00[AMR][1000 genomes]
rs72865946	0.88[AMR][1000 genomes]
rs72865961	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72865963	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72865999	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72867415	0.88[AMR][1000 genomes]
rs72867421	0.88[AMR][1000 genomes]
rs72867431	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72867433	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72867438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72867441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867455	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867467	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72867469	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72867481	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv8213	chr1:10450914-10460439	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 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	chr1:10457600-10459600	Active TSS	A549	lung
2	chr1:10458000-10460200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:10458000-10460200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:10458200-10459600	Active TSS	Primary T cells from cord blood	blood
5	chr1:10458200-10459600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr1:10458200-10459600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr1:10458200-10459600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:10458200-10459600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:10458200-10459600	Active TSS	Fetal Thymus	thymus
10	chr1:10458200-10459600	Active TSS	Right Ventricle	heart
11	chr1:10458200-10459800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:10458200-10459800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:10458200-10459800	Active TSS	Brain Angular Gyrus	brain
14	chr1:10458200-10459800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:10458200-10459800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:10458200-10459800	Active TSS	Fetal Brain Female	brain
17	chr1:10458200-10459800	Active TSS	Fetal Intestine Large	intestine
18	chr1:10458200-10459800	Active TSS	Fetal Intestine Small	intestine
19	chr1:10458200-10459800	Active TSS	Fetal Stomach	stomach
20	chr1:10458200-10459800	Active TSS	GM12878-XiMat	blood
21	chr1:10458200-10460000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:10458200-10460000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:10458200-10460000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:10458200-10460000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:10458200-10460000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:10458200-10460000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:10458200-10460000	Active TSS	Esophagus	oesophagus
28	chr1:10458200-10460000	Active TSS	Fetal Kidney	kidney
29	chr1:10458200-10460000	Active TSS	Fetal Lung	lung
30	chr1:10458200-10460000	Active TSS	Ovary	ovary
31	chr1:10458200-10460000	Active TSS	Psoas Muscle	Psoas
32	chr1:10458200-10460000	Active TSS	Hela-S3	cervix
33	chr1:10458200-10460000	Active TSS	K562	blood
34	chr1:10458200-10460000	Active TSS	Osteobl	bone
35	chr1:10458200-10460200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:10458200-10460200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:10458200-10460200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:10458200-10460200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:10458200-10460200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:10458200-10460200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:10458200-10460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr1:10458200-10460200	Active TSS	Fetal Muscle Trunk	muscle
43	chr1:10458200-10460200	Active TSS	NHLF	lung
44	chr1:10458200-10460400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:10458200-10460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:10458200-10460400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:10458200-10460800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:10458200-10460800	Active TSS	HSMMtube	muscle
49	chr1:10458400-10459600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:10458400-10459800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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