Variant report

Variant	rs543641161
Chromosome Location	chr1:228593826-228593827
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	HA-E2F1	chr1:228593812-228594644	Hela-S3	cervix:	n/a	chr1:228594628-228594637
2	MAX	chr1:228593803-228594426	H1-hESC	embryonic stem cell:	n/a	chr1:228593838-228593848
3	SIN3AK20	chr1:228593810-228595322	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:228593496-228595131	Raji	blood:	n/a	n/a
5	POLR2A	chr1:228593584-228595097	K562	blood:	n/a	n/a
6	MYC	chr1:228593798-228594348	MCF-7	breast:	n/a	chr1:228593838-228593848
7	MAZ	chr1:228592699-228596257	IMR90	lung:	n/a	chr1:228593838-228593848 chr1:228593059-228593068
8	MYC	chr1:228593494-228595261	K562	blood:	n/a	chr1:228593838-228593848
9	YY1	chr1:228593640-228594786	K562	blood:	n/a	n/a
10	POLR2A	chr1:228593717-228594796	K562	blood:	n/a	n/a
11	RUNX3	chr1:228593762-228594303	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr1:228593809-228594774	SK-N-SH	brain:	n/a	n/a
13	HDAC2	chr1:228593729-228593952	K562	blood:	n/a	n/a
14	POLR2A	chr1:228593800-228594802	GM12878	blood:	n/a	n/a
15	CTCF	chr1:228593800-228593950	GM12865	blood:	n/a	n/a
16	CTCF	chr1:228593677-228594373	K562	blood:	n/a	n/a
17	EGR1	chr1:228593653-228594004	K562	blood:	n/a	chr1:228593835-228593844 chr1:228593834-228593847
18	ETS1	chr1:228593691-228594731	K562	blood:	n/a	chr1:228594540-228594553 chr1:228594538-228594553 chr1:228594542-228594553 chr1:228594541-228594555
19	POLR2A	chr1:228593787-228595112	HL-60	blood:	n/a	n/a
20	SIN3A	chr1:228593046-228595717	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:228593800-228593950	SAEC	small airway:	n/a	n/a
22	MAX	chr1:228593595-228595368	A549	lung:	n/a	chr1:228593838-228593848
23	POLR2A	chr1:228593815-228595055	MCF-7	breast:	n/a	n/a
24	YY1	chr1:228593805-228594679	SK-N-SH_RA	brain:	n/a	n/a
25	MAX	chr1:228593660-228595065	A549	lung:	n/a	chr1:228593838-228593848
26	TCF12	chr1:228593826-228595315	A549	lung:	n/a	n/a
27	YY1	chr1:228593813-228594627	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:228593786-228595146	A549	lung:	n/a	n/a
29	POLR2A	chr1:228593297-228595251	HepG2	liver:	n/a	n/a
30	CTCF	chr1:228593820-228593970	NHEK	skin:	n/a	n/a
31	ZBTB7A	chr1:228593534-228595316	K562	blood:	n/a	n/a
32	REST	chr1:228593797-228594715	HL-60	blood:	n/a	n/a
33	POLR2A	chr1:228593816-228595116	GM15510	blood:	n/a	n/a
34	POLR2A	chr1:228593803-228595145	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr1:228593623-228594065	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr1:228593766-228594721	PFSK-1	brain:	n/a	n/a
37	SMARCB1	chr1:228593303-228594553	Hela-S3	cervix:	n/a	n/a
38	ZNF384	chr1:228593774-228595246	K562	blood:	n/a	n/a
39	POLR2A	chr1:228593749-228595115	GM18951	blood:	n/a	n/a
40	YY1	chr1:228593764-228594609	K562	blood:	n/a	n/a
41	CTCF	chr1:228593780-228593930	HMEC	breast:	n/a	n/a
42	POLR2A	chr1:228593800-228594560	GM12878	blood:	n/a	n/a
43	MAX	chr1:228593779-228594931	MCF-7	breast:	n/a	chr1:228593838-228593848
44	POLR2A	chr1:228593631-228595101	GM12892	blood:	n/a	n/a
45	JUN	chr1:228593801-228595606	K562	blood:	n/a	chr1:228594626-228594635
46	YY1	chr1:228593815-228594358	A549	lung:	n/a	n/a
47	GABPA	chr1:228593736-228594743	K562	blood:	n/a	n/a
48	ELF1	chr1:228593731-228594767	K562	blood:	n/a	n/a
49	CTCF	chr1:228593818-228594062	K562	blood:	n/a	n/a
50	YY1	chr1:228593773-228594594	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:
2	chr1:228592366..228594573-chr1:228675027..228676697,3	MCF-7	breast:
3	chr1:228352369..228353889-chr1:228592900..228594754,2	K562	blood:
4	chr1:228353118..228354912-chr1:228591904..228594294,2	MCF-7	breast:
5	chr1:228327795..228330213-chr1:228593794..228595426,3	K562	blood:
6	chr1:228589639..228603795-chr1:228638211..228648676,43	MCF-7	breast:
7	chr1:228490156..228493028-chr1:228593134..228595119,2	K562	blood:
8	chr1:228581680..228585660-chr1:228593046..228594989,3	MCF-7	breast:
9	chr1:228585219..228604537-chr1:228641966..228650471,45	MCF-7	breast:
10	chr1:228325086..228327857-chr1:228592809..228594638,2	K562	blood:

Variant related genes	Relation type
ENSG00000231563	TF binding region
TRIM11	TF binding region
ENSG00000270094	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000270110	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000266174	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
5	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv468271	chr1:228464248-228601638	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv468283	chr1:228464248-228601638	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv468294	chr1:228464248-228601638	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv549295	chr1:228464248-228601638	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
14	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv873280	chr1:228500627-228603029	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
18	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
19	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv508697	chr1:228540037-228622614	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
21	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
22	esv3362220	chr1:228592754-228595502	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 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	chr1:228592000-228594000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:228592400-228594400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:228592600-228594000	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr1:228592600-228595200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:228592600-228596000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:228592800-228595200	Active TSS	A549	lung
7	chr1:228592800-228596400	Active TSS	HSMM	muscle
8	chr1:228593000-228594200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:228593000-228594200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:228593000-228594200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:228593000-228594400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr1:228593000-228595000	Active TSS	HMEC	breast
13	chr1:228593000-228595200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:228593000-228596000	Active TSS	NHDF-Ad	bronchial
15	chr1:228593200-228595000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:228593200-228595000	Active TSS	Hela-S3	cervix
17	chr1:228593200-228595000	Active TSS	HSMMtube	muscle
18	chr1:228593200-228595000	Active TSS	NHEK	skin
19	chr1:228593200-228595400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:228593200-228595400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:228593200-228595400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:228593200-228595600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:228593200-228595600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:228593200-228595600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:228593200-228595800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:228593200-228595800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:228593200-228595800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:228593200-228596000	Active TSS	NHLF	lung
29	chr1:228593400-228594000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:228593400-228594000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:228593400-228594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:228593400-228595000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:228593400-228595000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:228593400-228595000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr1:228593400-228595000	Active TSS	Small Intestine	intestine
36	chr1:228593400-228595200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr1:228593400-228595200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:228593400-228595200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:228593400-228595200	Active TSS	GM12878-XiMat	blood
40	chr1:228593400-228595400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:228593400-228595400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:228593400-228595600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:228593400-228595600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:228593400-228595600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:228593400-228595800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:228593400-228596200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:228593600-228594200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:228593600-228594400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:228593600-228594400	Active TSS	Stomach Mucosa	stomach
50	chr1:228593600-228594800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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