Variant report

Variant	rs74140914
Chromosome Location	chr1:228269040-228269041
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	POLR2A	chr1:228268950-228270812	GM12891	blood:	n/a	n/a
2	E2F6	chr1:228268886-228269191	K562	blood:	n/a	n/a
3	E2F6	chr1:228268914-228270468	K562	blood:	n/a	chr1:228270281-228270290 chr1:228270206-228270215 chr1:228270312-228270321
4	YY1	chr1:228268912-228269094	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:228268843-228274035	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:228268861-228272292	K562	blood:	n/a	n/a
7	MYC	chr1:228269018-228269094	K562	blood:	n/a	chr1:228269039-228269048
8	MYC	chr1:228268849-228272477	K562	blood:	n/a	chr1:228271848-228271859 chr1:228269763-228269773 chr1:228269970-228269981 chr1:228271849-228271856 chr1:228270033-228270043 chr1:228269015-228269031 chr1:228269970-228269980 chr1:228269972-228269979 chr1:228269039-228269048
9	POLR2A	chr1:228268887-228269676	K562	blood:	n/a	n/a
10	YY1	chr1:228268823-228269166	K562	blood:	n/a	n/a
11	MAX	chr1:228268896-228269119	GM12878	blood:	n/a	chr1:228269015-228269031 chr1:228269039-228269048
12	RUNX3	chr1:228268879-228269225	GM12878	blood:	n/a	n/a
13	MXI1	chr1:228268732-228272801	SK-N-SH	brain:	n/a	chr1:228269970-228269979
14	POLR2A	chr1:228269035-228270753	K562	blood:	n/a	n/a
15	POLR2A	chr1:228268856-228269792	PFSK-1	brain:	n/a	n/a
16	MYC	chr1:228268863-228269231	K562	blood:	n/a	chr1:228269015-228269031 chr1:228269039-228269048
17	POLR2A	chr1:228268856-228269130	GM12878	blood:	n/a	n/a
18	RUNX3	chr1:228268865-228269283	GM12878	blood:	n/a	n/a
19	YY1	chr1:228268801-228269164	K562	blood:	n/a	n/a
20	POLR2A	chr1:228268798-228269711	SK-N-MC	brain:	n/a	n/a
21	YY1	chr1:228268879-228269171	GM12878	blood:	n/a	n/a
22	CHD2	chr1:228268997-228269183	K562	blood:	n/a	n/a
23	POLR2A	chr1:228268831-228271953	K562	blood:	n/a	n/a
24	POLR2A	chr1:228269015-228272289	GM18505	blood:	n/a	n/a
25	MAZ	chr1:228268871-228272552	IMR90	lung:	n/a	chr1:228271848-228271859 chr1:228269763-228269773 chr1:228269970-228269981 chr1:228271849-228271856 chr1:228270033-228270043 chr1:228269015-228269031 chr1:228269970-228269980 chr1:228269972-228269979 chr1:228269039-228269048
26	POLR2A	chr1:228269008-228269292	HCT-116	colon:	n/a	n/a
27	MXI1	chr1:228268919-228269387	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:228268978-228269680	GM12878	blood:	n/a	n/a
29	MYC	chr1:228268973-228269086	GM12878	blood:	n/a	chr1:228269015-228269031 chr1:228269039-228269048
30	NR2F2	chr1:228268716-228270659	K562	blood:	n/a	n/a
31	YY1	chr1:228268780-228269177	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:228268894-228269150	GM12878	blood:	n/a	n/a
33	ELF1	chr1:228268756-228271279	GM12878	blood:	n/a	chr1:228270382-228270391 chr1:228270805-228270818 chr1:228269836-228269848 chr1:228270761-228270770 chr1:228269866-228269878
34	UBTF	chr1:228268987-228269670	K562	blood:	n/a	n/a
35	MAX	chr1:228268751-228272869	K562	blood:	n/a	chr1:228271848-228271859 chr1:228269763-228269773 chr1:228269970-228269981 chr1:228271849-228271856 chr1:228270033-228270043 chr1:228269015-228269031 chr1:228269970-228269980 chr1:228269972-228269979 chr1:228269039-228269048
36	EBF1	chr1:228268936-228269645	GM12878	blood:	n/a	n/a
37	MAX	chr1:228268893-228269216	K562	blood:	n/a	chr1:228269015-228269031 chr1:228269039-228269048
38	MAX	chr1:228268884-228269198	K562	blood:	n/a	chr1:228269015-228269031 chr1:228269039-228269048
39	ZNF143	chr1:228269030-228269211	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:228268769-228273719	K562	blood:	n/a	n/a
41	POLR2A	chr1:228268865-228272287	GM12892	blood:	n/a	n/a
42	HEY1	chr1:228268975-228274841	K562	blood:	n/a	chr1:228273039-228273054 chr1:228270374-228270389 chr1:228269868-228269883
43	POLR2A	chr1:228268947-228273523	GM12878	blood:	n/a	n/a
44	YY1	chr1:228268872-228269252	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228268869..228271597-chr1:228699816..228701498,2	K562	blood:
2	chr1:228267816..228271023-chr1:228334433..228337364,3	K562	blood:
3	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:
4	chr1:228268335..228271224-chr1:228352172..228356089,4	K562	blood:
5	chr1:228268894..228271778-chr1:228351302..228354925,4	MCF-7	breast:
6	chr1:228267983..228269550-chr1:228473871..228475607,2	K562	blood:
7	chr1:227923000..227925656-chr1:228268639..228271303,2	MCF-7	breast:
8	chr1:228180647..228182707-chr1:228268126..228270057,2	K562	blood:
9	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
10	chr1:228216833..228219202-chr1:228268164..228269847,2	K562	blood:
11	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
12	chr1:228267482..228269833-chr1:228325846..228328403,3	K562	blood:

Variant related genes	Relation type
ARF1	TF binding region
ENSG00000143740	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000154342	Chromatin interaction
ENSG00000215811	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55954688	1.00[AFR][1000 genomes]
rs56226852	1.00[AFR][1000 genomes]
rs56831205	1.00[AFR][1000 genomes]
rs57446195	1.00[AFR][1000 genomes]
rs57450243	1.00[AFR][1000 genomes]
rs58035269	1.00[AFR][1000 genomes]
rs60245137	1.00[AFR][1000 genomes]
rs61737797	1.00[AFR][1000 genomes]
rs74140907	1.00[AFR][1000 genomes]
rs74140912	1.00[AFR][1000 genomes]
rs74140915	1.00[AFR][1000 genomes]
rs74140918	1.00[AFR][1000 genomes]
rs74140924	1.00[AFR][1000 genomes]
rs74140925	1.00[AFR][1000 genomes]
rs74140960	1.00[AFR][1000 genomes]
rs74140961	1.00[AFR][1000 genomes]
rs74140965	1.00[AFR][1000 genomes]
rs74143623	1.00[AFR][1000 genomes]
rs74143632	1.00[AFR][1000 genomes]
rs74143663	1.00[AFR][1000 genomes]
rs74143665	1.00[AFR][1000 genomes]
rs74143667	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	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
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228263000-228269200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:228263800-228269200	Weak transcription	Fetal Lung	lung
3	chr1:228266000-228269200	Weak transcription	Left Ventricle	heart
4	chr1:228267000-228269200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:228267000-228269200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:228267800-228269200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:228268600-228269200	Enhancers	Gastric	stomach
8	chr1:228268600-228269600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:228268800-228269200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:228268800-228269200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:228268800-228269200	Enhancers	Primary B cells from cord blood	blood
12	chr1:228268800-228269200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:228268800-228269200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:228268800-228269200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:228268800-228269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:228268800-228269200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:228268800-228269200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:228268800-228269200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:228268800-228269200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:228268800-228269200	Enhancers	Ovary	ovary
21	chr1:228268800-228269200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:228268800-228269200	Enhancers	Right Ventricle	heart
23	chr1:228268800-228269200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:228268800-228269400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:228268800-228269400	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:228268800-228269600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr1:228268800-228269600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:228268800-228269600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:228268800-228269600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:228268800-228269600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:228268800-228269600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:228268800-228269600	Flanking Active TSS	Dnd41	blood
33	chr1:228268800-228269600	Flanking Active TSS	HMEC	breast
34	chr1:228268800-228269600	Flanking Active TSS	K562	blood
35	chr1:228268800-228269800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr1:228268800-228270000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:228269000-228269200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr1:228269000-228269200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr1:228269000-228269200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:228269000-228269200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:228269000-228269200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:228269000-228269200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:228269000-228269200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:228269000-228269200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr1:228269000-228269200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:228269000-228269200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:228269000-228269200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:228269000-228269200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:228269000-228269200	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:228269000-228269200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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