Variant report

Variant	rs56255753
Chromosome Location	chr1:153538929-153538930
allele	C/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	SIN3AK20	chr1:153538921-153539569	A549	lung:	n/a	n/a
2	GABPA	chr1:153538738-153539381	MCF-7	breast:	n/a	n/a
3	TBP	chr1:153538915-153539691	K562	blood:	n/a	n/a
4	POLR2A	chr1:153538842-153540012	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:153538102-153539850	IMR90	lung:	n/a	n/a
6	GATA3	chr1:153538867-153539507	A549	lung:	n/a	n/a
7	CUX1	chr1:153538919-153539399	K562	blood:	n/a	n/a
8	POLR2A	chr1:153538680-153539549	K562	blood:	n/a	n/a
9	TCF7L2	chr1:153538861-153539385	Hela-S3	cervix:	n/a	chr1:153539169-153539178 chr1:153539168-153539177
10	POLR2A	chr1:153538824-153539126	A549	lung:	n/a	n/a
11	JUND	chr1:153538858-153539549	T-47D	breast:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539167-153539178 chr1:153539206-153539216 chr1:153539206-153539216 chr1:153539205-153539216
12	EP300	chr1:153538906-153539337	T-47D	breast:	n/a	chr1:153538969-153538979
13	ELF1	chr1:153538724-153539495	MCF-7	breast:	n/a	n/a
14	YY1	chr1:153538862-153539528	ECC-1	luminal epithelium:	n/a	n/a
15	STAT5A	chr1:153538926-153539412	K562	blood:	n/a	chr1:153539132-153539144
16	SIX5	chr1:153538804-153539635	A549	lung:	n/a	n/a
17	TCF12	chr1:153538835-153539271	H1-hESC	embryonic stem cell:	n/a	chr1:153539098-153539108 chr1:153539241-153539251
18	POLR2A	chr1:153538818-153539549	ProgFib	skin:	n/a	n/a
19	RAD21	chr1:153538876-153539528	ECC-1	luminal epithelium:	n/a	n/a
20	JUND	chr1:153538750-153539796	SK-N-SH	brain:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539167-153539178 chr1:153539206-153539216 chr1:153539206-153539216 chr1:153539205-153539216
21	NR3C1	chr1:153538826-153539388	A549	lung:	n/a	chr1:153539169-153539178 chr1:153539207-153539216
22	EP300	chr1:153538834-153539568	MCF-7	breast:	n/a	chr1:153538969-153538979
23	ATF3	chr1:153538840-153539456	A549	lung:	n/a	n/a
24	PBX3	chr1:153538713-153539493	SK-N-SH	brain:	n/a	n/a
25	FOSL2	chr1:153538886-153539534	SK-N-SH	brain:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539206-153539216 chr1:153539206-153539216 chr1:153539168-153539179
26	CHD2	chr1:153538920-153539385	K562	blood:	n/a	n/a
27	TAF1	chr1:153538593-153539395	SK-N-SH	brain:	n/a	n/a
28	NR3C1	chr1:153538836-153539935	A549	lung:	n/a	chr1:153539368-153539394 chr1:153539368-153539394 chr1:153539452-153539470 chr1:153539169-153539178 chr1:153539207-153539216
29	FOSL2	chr1:153538901-153539370	HepG2	liver:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539206-153539216 chr1:153539206-153539216 chr1:153539168-153539179
30	JUND	chr1:153538881-153539385	HepG2	liver:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539167-153539178 chr1:153539206-153539216 chr1:153539206-153539216 chr1:153539205-153539216
31	FOSL1	chr1:153537779-153539713	HCT-116	colon:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539206-153539216 chr1:153538365-153538374 chr1:153538361-153538372 chr1:153539206-153539216 chr1:153539205-153539216 chr1:153539167-153539178
32	POLR2A	chr1:153537976-153539816	HUVEC	blood vessel:	n/a	n/a
33	NR2F2	chr1:153538815-153539494	MCF-7	breast:	n/a	n/a
34	MAZ	chr1:153538824-153539431	HepG2	liver:	n/a	n/a
35	YY1	chr1:153538914-153539332	K562	blood:	n/a	n/a
36	TAF1	chr1:153538823-153539422	Hela-S3	cervix:	n/a	n/a
37	MYBL2	chr1:153538894-153539274	HepG2	liver:	n/a	n/a
38	SP1	chr1:153537979-153539708	A549	lung:	n/a	chr1:153539137-153539146 chr1:153539135-153539146 chr1:153539136-153539150 chr1:153539096-153539110 chr1:153539029-153539043
39	FOSL2	chr1:153537800-153539606	SK-N-SH	brain:	n/a	chr1:153539206-153539216 chr1:153539205-153539217 chr1:153539169-153539178 chr1:153539207-153539215 chr1:153539208-153539219 chr1:153539206-153539216 chr1:153538365-153538374 chr1:153538361-153538372 chr1:153539206-153539216 chr1:153539168-153539179
40	ETS1	chr1:153538739-153539505	A549	lung:	n/a	chr1:153539225-153539236 chr1:153539082-153539093 chr1:153539137-153539148
41	ZBTB7A	chr1:153538834-153539347	K562	blood:	n/a	n/a
42	FOXP2	chr1:153538829-153539499	PFSK-1	brain:	n/a	n/a
43	BRCA1	chr1:153538896-153539499	Hela-S3	cervix:	n/a	n/a
44	NR3C1	chr1:153538868-153539583	A549	lung:	n/a	chr1:153539368-153539394 chr1:153539368-153539394 chr1:153539452-153539470 chr1:153539169-153539178 chr1:153539207-153539216
45	POLR2A	chr1:153538815-153539131	A549	lung:	n/a	n/a
46	RFX5	chr1:153538242-153539405	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:153538795-153539735	U87	brain:	n/a	n/a
48	EP300	chr1:153538846-153539344	HepG2	liver:	n/a	chr1:153538969-153538979
49	TAF1	chr1:153538584-153539527	A549	lung:	n/a	n/a
50	MAFK	chr1:153538858-153539621	K562	blood:	n/a	chr1:153539208-153539217

No.	Distal block	Cell Line	Cell type
1	chr1:153536925..153539179-chr1:153962275..153964605,2	K562	blood:
2	chr1:153538054..153540599-chr1:153598556..153600339,3	K562	blood:
3	chr1:153535957..153537557-chr1:153537607..153539354,2	MCF-7	breast:
4	chr1:153536879..153538939-chr1:153934770..153936803,2	MCF-7	breast:
5	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
6	chr1:153538723..153539242-chr5:32174206..32175052,2	Hela-S3	cervix:
7	chr1:153537152..153539160-chr1:153746062..153748854,2	MCF-7	breast:
8	chr1:153537679..153540436-chr1:153962275..153964884,2	K562	blood:
9	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
10	chr1:153515310..153522123-chr1:153537390..153541283,13	MCF-7	breast:
11	chr1:153537973..153540755-chr1:153602282..153604926,2	K562	blood:
12	chr1:153517686..153519228-chr1:153538736..153541189,3	K562	blood:
13	chr1:153516187..153518294-chr1:153538747..153540345,2	K562	blood:
14	chr1:153514173..153516527-chr1:153537925..153539864,2	K562	blood:
15	chr1:153504127..153510657-chr1:153537210..153543304,15	K562	blood:
16	chr1:153503567..153510701-chr1:153536906..153541884,20	MCF-7	breast:
17	chr1:153522267..153525133-chr1:153537337..153540137,3	MCF-7	breast:
18	chr1:153534464..153536760-chr1:153538176..153540228,3	MCF-7	breast:
19	chr1:153538405..153539148-chr17:73087510..73088103,2	Hela-S3	cervix:
20	chr1:153536449..153542914-chr1:153579157..153590800,34	MCF-7	breast:
21	chr1:153504897..153511307-chr1:153536318..153542519,37	MCF-7	breast:
22	chr1:153537683..153540046-chr1:153895076..153896651,2	K562	blood:
23	chr1:153536608..153541746-chr1:153698648..153702694,5	MCF-7	breast:
24	chr1:153536900..153539436-chr1:153605197..153607603,3	K562	blood:
25	chr1:153537634..153542525-chr1:153598837..153602183,9	K562	blood:

Variant related genes	Relation type
S100A2	TF binding region
ENSG00000197956	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000188015	Chromatin interaction
ENSG00000196420	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000113384	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000272086	Chromatin interaction
ENSG00000199565	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11488667	1.00[EUR][1000 genomes]
rs11973	1.00[EUR][1000 genomes]
rs16835357	1.00[EUR][1000 genomes]
rs16835362	1.00[EUR][1000 genomes]
rs16835371	1.00[EUR][1000 genomes]
rs16835373	1.00[EUR][1000 genomes]
rs16835375	1.00[EUR][1000 genomes]
rs16835379	1.00[EUR][1000 genomes]
rs16835389	1.00[EUR][1000 genomes]
rs16835409	1.00[EUR][1000 genomes]
rs16835413	1.00[EUR][1000 genomes]
rs16835417	1.00[EUR][1000 genomes]
rs2104500	1.00[EUR][1000 genomes]
rs2230870	1.00[EUR][1000 genomes]
rs28373144	1.00[EUR][1000 genomes]
rs28407716	1.00[EUR][1000 genomes]
rs28442251	1.00[EUR][1000 genomes]
rs28451322	1.00[EUR][1000 genomes]
rs28456342	1.00[EUR][1000 genomes]
rs28485860	1.00[EUR][1000 genomes]
rs28510499	1.00[EUR][1000 genomes]
rs28578863	1.00[EUR][1000 genomes]
rs28587171	1.00[EUR][1000 genomes]
rs28605603	1.00[EUR][1000 genomes]
rs28634320	1.00[EUR][1000 genomes]
rs28645589	1.00[EUR][1000 genomes]
rs28648662	1.00[EUR][1000 genomes]
rs28690872	1.00[EUR][1000 genomes]
rs28694652	1.00[EUR][1000 genomes]
rs28709866	1.00[EUR][1000 genomes]
rs28784102	1.00[EUR][1000 genomes]
rs3014827	1.00[EUR][1000 genomes]
rs3856025	1.00[EUR][1000 genomes]
rs56140059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58529054	1.00[EUR][1000 genomes]
rs59209384	1.00[EUR][1000 genomes]
rs59617976	1.00[EUR][1000 genomes]
rs60219287	1.00[EUR][1000 genomes]
rs60460123	1.00[EUR][1000 genomes]
rs61038462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61131911	1.00[EUR][1000 genomes]
rs61148582	1.00[EUR][1000 genomes]
rs73009954	1.00[EUR][1000 genomes]
rs73011738	1.00[EUR][1000 genomes]
rs73020460	1.00[EUR][1000 genomes]
rs73020461	1.00[EUR][1000 genomes]
rs73020464	1.00[EUR][1000 genomes]
rs73020467	1.00[EUR][1000 genomes]
rs73020468	1.00[EUR][1000 genomes]
rs73020471	1.00[EUR][1000 genomes]
rs73020473	1.00[EUR][1000 genomes]
rs73020474	1.00[EUR][1000 genomes]
rs73020478	1.00[EUR][1000 genomes]
rs73020479	1.00[EUR][1000 genomes]
rs73020496	1.00[EUR][1000 genomes]
rs73020497	1.00[EUR][1000 genomes]
rs73024502	1.00[EUR][1000 genomes]
rs73026308	1.00[EUR][1000 genomes]
rs730347	1.00[EUR][1000 genomes]
rs74115477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74115478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74115489	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs746425	1.00[EUR][1000 genomes]
rs7518794	1.00[EUR][1000 genomes]
rs7528738	1.00[EUR][1000 genomes]
rs7543851	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
4	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153532800-153539600	Weak transcription	Thymus	Thymus
2	chr1:153535800-153540800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:153535800-153541600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:153536000-153539200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:153536000-153539200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:153536000-153540800	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:153536000-153541600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:153536000-153541600	Enhancers	Placenta	Placenta
9	chr1:153536000-153541600	Enhancers	Lung	lung
10	chr1:153536000-153542000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:153536200-153541800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:153536600-153541000	Enhancers	Fetal Intestine Large	intestine
13	chr1:153536800-153540800	Enhancers	Stomach Mucosa	stomach
14	chr1:153536800-153541800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:153537000-153540800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:153537000-153541600	Enhancers	HUVEC	blood vessel
17	chr1:153537600-153541600	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:153537800-153539000	Enhancers	Colon Smooth Muscle	Colon
19	chr1:153537800-153539000	Flanking Active TSS	HSMM	muscle
20	chr1:153537800-153539200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:153537800-153539200	Enhancers	Adipose Nuclei	Adipose
22	chr1:153537800-153539200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:153537800-153539200	Enhancers	Osteobl	bone
24	chr1:153537800-153539600	Enhancers	Aorta	Aorta
25	chr1:153537800-153539600	Enhancers	Fetal Stomach	stomach
26	chr1:153537800-153539600	Enhancers	Ovary	ovary
27	chr1:153537800-153539800	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:153537800-153539800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:153537800-153539800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:153537800-153539800	Enhancers	GM12878-XiMat	blood
31	chr1:153537800-153540000	Enhancers	Fetal Lung	lung
32	chr1:153537800-153540400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:153537800-153540400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:153537800-153540400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:153537800-153540400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr1:153537800-153540600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:153537800-153540600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:153537800-153540800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:153537800-153540800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:153537800-153540800	Enhancers	Right Ventricle	heart
41	chr1:153537800-153540800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr1:153537800-153541000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:153537800-153541000	Enhancers	Primary B cells from cord blood	blood
44	chr1:153537800-153541600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:153537800-153541600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:153537800-153541600	Enhancers	Fetal Heart	heart
47	chr1:153537800-153541600	Enhancers	Fetal Thymus	thymus
48	chr1:153537800-153541800	Flanking Active TSS	Hela-S3	cervix
49	chr1:153538000-153539000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:153538000-153539000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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