Variant report

Variant	rs7548743
Chromosome Location	chr1:153644252-153644253
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	JUN	chr1:153643384-153644254	K562	blood:	n/a	chr1:153643493-153643507 chr1:153643603-153643612
2	CTCF	chr1:153644220-153644370	AG09319	gingival:	n/a	n/a
3	GTF3C2	chr1:153643600-153644990	K562	blood:	n/a	n/a
4	CEBPB	chr1:153643258-153644580	Hela-S3	cervix:	n/a	chr1:153643504-153643512
5	HA-E2F1	chr1:153644070-153644823	MCF-7	breast:	n/a	n/a
6	ATF3	chr1:153643096-153644299	A549	lung:	n/a	n/a
7	RUNX3	chr1:153643156-153644567	GM12878	blood:	n/a	chr1:153643423-153643440
8	TBP	chr1:153643225-153644480	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOS	chr1:153643405-153644285	MCF10A-Er-Src	breast:	n/a	chr1:153643493-153643507 chr1:153643603-153643612
10	CREB1	chr1:153642939-153644507	GM12878	blood:	n/a	n/a
11	FOS	chr1:153643408-153644264	MCF10A-Er-Src	breast:	n/a	chr1:153643493-153643507 chr1:153643603-153643612
12	TRIM28	chr1:153643142-153644345	K562	blood:	n/a	n/a
13	JUND	chr1:153643266-153644657	K562	blood:	n/a	chr1:153643493-153643507 chr1:153643603-153643612
14	STAT1	chr1:153643133-153644308	GM12878	blood:	n/a	n/a
15	YY1	chr1:153642864-153644255	SK-N-SH	brain:	n/a	chr1:153643093-153643102 chr1:153644039-153644048
16	TBL1XR1	chr1:153642452-153644354	K562	blood:	n/a	n/a
17	MAX	chr1:153642567-153644517	A549	lung:	n/a	n/a
18	SIX5	chr1:153643000-153644492	A549	lung:	n/a	chr1:153643933-153643947
19	POLR2A	chr1:153643109-153644661	Hela-S3	cervix:	n/a	n/a
20	STAT5A	chr1:153643051-153644296	GM12878	blood:	n/a	n/a
21	CBX3	chr1:153643214-153644345	K562	blood:	n/a	chr1:153644266-153644277
22	SIN3A	chr1:153642434-153644399	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr1:153643220-153644930	Hela-S3	cervix:	n/a	n/a
24	ZNF384	chr1:153643530-153644835	GM12878	blood:	n/a	n/a
25	REST	chr1:153642570-153644561	H1-neurons	neurons:	n/a	n/a
26	FOS	chr1:153643389-153644253	MCF10A-Er-Src	breast:	n/a	chr1:153643493-153643507 chr1:153643603-153643612
27	YY1	chr1:153644242-153644695	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:153642580-153644354	Hela-S3	cervix:	n/a	n/a
29	TEAD4	chr1:153643103-153644517	K562	blood:	n/a	n/a
30	SREBP2	chr1:153643121-153644788	GM12878	blood:	n/a	n/a
31	TBP	chr1:153643168-153644578	K562	blood:	n/a	n/a
32	STAT3	chr1:153643398-153644261	Hela-S3	cervix:	n/a	n/a
33	MAX	chr1:153643040-153644278	ECC-1	luminal epithelium:	n/a	n/a
34	TBP	chr1:153643258-153644406	GM12878	blood:	n/a	n/a
35	UBTF	chr1:153643264-153644581	K562	blood:	n/a	n/a
36	FOS	chr1:153643369-153644304	MCF10A-Er-Src	breast:	n/a	chr1:153643493-153643507 chr1:153643603-153643612
37	TCF12	chr1:153642719-153644667	A549	lung:	n/a	n/a
38	RCOR1	chr1:153643292-153644533	K562	blood:	n/a	n/a
39	GTF3C2	chr1:153643291-153645005	Hela-S3	cervix:	n/a	n/a
40	ARID3A	chr1:153643252-153644712	K562	blood:	n/a	n/a
41	SIN3AK20	chr1:153642691-153644282	MCF-7	breast:	n/a	n/a
42	MAX	chr1:153643058-153644345	HepG2	liver:	n/a	n/a
43	RUNX3	chr1:153643145-153644854	GM12878	blood:	n/a	chr1:153643423-153643440
44	SP1	chr1:153643172-153644360	HCT-116	colon:	n/a	chr1:153643600-153643621 chr1:153643526-153643547 chr1:153643222-153643231
45	KAP1	chr1:153643307-153644407	U2OS	brain:	n/a	n/a
46	SIN3AK20	chr1:153643574-153644489	A549	lung:	n/a	n/a
47	GATA1	chr1:153643229-153644399	PBDE	blood:	n/a	n/a
48	NR2F2	chr1:153642981-153644601	K562	blood:	n/a	n/a
49	CTCF	chr1:153644160-153644310	AG04450	lung:	n/a	n/a
50	RFX5	chr1:153643251-153644405	HepG2	liver:	n/a	chr1:153643617-153643630

No.	Distal block	Cell Line	Cell type
1	chr1:153641625..153644878-chr1:153937648..153941391,3	K562	blood:
2	chr1:153640832..153646304-chr1:153937039..153940655,5	MCF-7	breast:
3	chr1:153642114..153645022-chr1:153918498..153920890,2	MCF-7	breast:
4	chr1:153640859..153647825-chr1:153650423..153657512,10	K562	blood:
5	chr1:153643715..153646402-chr1:153669799..153672333,2	K562	blood:
6	chr1:153604957..153607992-chr1:153642564..153646231,5	MCF-7	breast:
7	chr1:153643641..153645908-chr1:153648834..153651960,3	MCF-7	breast:
8	chr1:153642143..153644918-chr1:153747497..153749679,4	MCF-7	breast:
9	chr1:153641137..153644859-chr1:153962268..153964805,3	MCF-7	breast:
10	chr1:153641911..153645780-chr1:153697153..153701509,4	MCF-7	breast:
11	chr1:153643869..153645896-chr1:153721134..153723498,2	MCF-7	breast:
12	chr1:153641515..153644992-chr1:153698475..153702164,4	MCF-7	breast:
13	chr1:153642259..153645171-chr1:153961754..153965588,6	K562	blood:
14	chr1:153642202..153645171-chr1:153961721..153964784,6	K562	blood:
15	chr1:153643510..153646467-chr1:153957647..153960335,2	MCF-7	breast:
16	chr1:153641478..153645789-chr1:153651108..153654010,4	K562	blood:
17	chr1:153643715..153646402-chr1:153669451..153672333,3	K562	blood:
18	chr1:153599101..153601090-chr1:153642486..153644716,4	MCF-7	breast:
19	chr1:153643179..153645483-chr1:153949233..153951694,3	MCF-7	breast:
20	chr1:153642060..153644288-chr1:153917037..153920697,4	K562	blood:

Variant related genes	Relation type
ILF2	TF binding region
ENSG00000198837	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000169418	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000199565	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000189171	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12062984	1.00[MEX][hapmap]
rs16835602	1.00[CHD][hapmap]
rs9725547	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
12	nsv464028	chr1:153622220-153723037	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv547929	chr1:153622220-153723037	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
15	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
16	nsv1001312	chr1:153622834-153724867	Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv535176	chr1:153622834-153724867	Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153642000-153644800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:153642000-153645000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:153642000-153645000	Active TSS	HSMMtube	muscle
4	chr1:153642200-153644600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:153642200-153645000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:153642400-153644600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:153642400-153644800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:153642400-153644800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:153642400-153644800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:153642400-153644800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:153642400-153644800	Active TSS	Left Ventricle	heart
12	chr1:153642400-153644800	Active TSS	NHDF-Ad	bronchial
13	chr1:153642400-153645000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:153642400-153645000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:153642400-153645000	Active TSS	Right Ventricle	heart
16	chr1:153642400-153645000	Active TSS	A549	lung
17	chr1:153642600-153644600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:153642600-153644600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:153642600-153644600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:153642600-153644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:153642600-153644600	Active TSS	Gastric	stomach
22	chr1:153642600-153644600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:153642600-153644600	Active TSS	GM12878-XiMat	blood
24	chr1:153642600-153645000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:153642600-153645000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:153642600-153645000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:153642600-153645000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:153642600-153645000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:153642600-153645000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:153642600-153645000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:153642600-153645000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:153642600-153645000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:153642600-153645000	Active TSS	Fetal Brain Female	brain
34	chr1:153642600-153645000	Active TSS	Ovary	ovary
35	chr1:153642600-153645000	Bivalent/Poised TSS	HepG2	liver
36	chr1:153642600-153645000	Active TSS	HSMM	muscle
37	chr1:153642600-153645000	Active TSS	K562	blood
38	chr1:153642600-153645200	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr1:153642800-153644600	Active TSS	Aorta	Aorta
40	chr1:153642800-153644600	Active TSS	Fetal Brain Male	brain
41	chr1:153642800-153644600	Active TSS	Fetal Heart	heart
42	chr1:153642800-153644600	Active TSS	Fetal Lung	lung
43	chr1:153642800-153644600	Active TSS	Small Intestine	intestine
44	chr1:153642800-153644600	Active TSS	HUVEC	blood vessel
45	chr1:153642800-153644600	Active TSS	NHEK	skin
46	chr1:153642800-153644800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:153642800-153644800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:153642800-153644800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:153642800-153644800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:153642800-153644800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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