Variant report

Variant	rs532346144
Chromosome Location	chr1:228269692-228269693
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	chr1:228269194-228269967	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:228269313-228269703	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:228268950-228270812	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:228269198-228271877	GM19193	blood:	n/a	n/a
5	MAX	chr1:228269375-228270644	H1-hESC	embryonic stem cell:	n/a	chr1:228269763-228269773 chr1:228269970-228269981 chr1:228270033-228270043 chr1:228269970-228269980 chr1:228269972-228269979
6	E2F6	chr1:228268914-228270468	K562	blood:	n/a	chr1:228270281-228270290 chr1:228270206-228270215 chr1:228270312-228270321
7	POLR2A	chr1:228269247-228269779	HUVEC	blood vessel:	n/a	n/a
8	CREB1	chr1:228269350-228271910	HepG2	liver:	n/a	chr1:228270390-228270403
9	POLR2A	chr1:228268843-228274035	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:228269089-228271196	Raji	blood:	n/a	n/a
11	MAX	chr1:228269435-228269694	K562	blood:	n/a	n/a
12	POLR2A	chr1:228269537-228270951	GM10847	blood:	n/a	n/a
13	TCF12	chr1:228269661-228270407	A549	lung:	n/a	chr1:228270289-228270299
14	POLR2A	chr1:228269191-228271920	GM12878	blood:	n/a	n/a
15	E2F6	chr1:228269475-228270550	A549	lung:	n/a	chr1:228270281-228270290 chr1:228270206-228270215 chr1:228270312-228270321
16	POLR2A	chr1:228268861-228272292	K562	blood:	n/a	n/a
17	POLR2A	chr1:228269411-228269734	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr1:228269434-228272362	K562	blood:	n/a	chr1:228271848-228271859 chr1:228269763-228269773 chr1:228269970-228269981 chr1:228271849-228271856 chr1:228270033-228270043 chr1:228269970-228269980 chr1:228269972-228269979
19	POLR2A	chr1:228269429-228271869	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:228269080-228271411	K562	blood:	n/a	n/a
21	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
22	SIN3AK20	chr1:228269692-228271096	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:228269241-228272029	HepG2	liver:	n/a	n/a
24	STAT5A	chr1:228269413-228269741	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:228269367-228269732	GM12891	blood:	n/a	n/a
26	UBTF	chr1:228269404-228271957	K562	blood:	n/a	n/a
27	MXI1	chr1:228268732-228272801	SK-N-SH	brain:	n/a	chr1:228269970-228269979
28	POLR2A	chr1:228269276-228269694	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:228269083-228270298	K562	blood:	n/a	n/a
30	MYC	chr1:228269522-228270941	NB4	blood:	n/a	chr1:228269763-228269773 chr1:228269970-228269981 chr1:228269972-228269979 chr1:228269970-228269980 chr1:228270033-228270043
31	POLR2A	chr1:228269035-228270753	K562	blood:	n/a	n/a
32	POLR2A	chr1:228269312-228271710	GM19099	blood:	n/a	n/a
33	POLR2A	chr1:228268856-228269792	PFSK-1	brain:	n/a	n/a
34	CBX3	chr1:228269342-228270493	K562	blood:	n/a	n/a
35	MAX	chr1:228269604-228270655	ECC-1	luminal epithelium:	n/a	chr1:228269763-228269773 chr1:228269970-228269981 chr1:228270033-228270043 chr1:228269970-228269980 chr1:228269972-228269979
36	POLR2A	chr1:228269152-228271601	GM18951	blood:	n/a	n/a
37	MAX	chr1:228269281-228270626	H1-hESC	embryonic stem cell:	n/a	chr1:228269763-228269773 chr1:228269970-228269981 chr1:228270033-228270043 chr1:228269970-228269980 chr1:228269972-228269979
38	POLR2A	chr1:228269291-228271510	GM15510	blood:	n/a	n/a
39	MAX	chr1:228269245-228272380	HepG2	liver:	n/a	chr1:228271848-228271859 chr1:228269763-228269773 chr1:228269970-228269981 chr1:228271849-228271856 chr1:228270033-228270043 chr1:228269970-228269980 chr1:228269972-228269979
40	POLR2A	chr1:228268798-228269711	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr1:228269344-228269705	HepG2	liver:	n/a	n/a
42	TAF1	chr1:228269356-228269787	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:228268831-228271953	K562	blood:	n/a	n/a
44	POLR2A	chr1:228269015-228272289	GM18505	blood:	n/a	n/a
45	POLR2A	chr1:228269471-228270889	NB4	blood:	n/a	n/a
46	POLR2A	chr1:228269335-228269724	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:228269046-228270878	K562	blood:	n/a	n/a
48	POLR2A	chr1:228269442-228269706	H1-hESC	embryonic stem cell:	n/a	n/a
49	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
50	MAX	chr1:228269402-228270622	K562	blood:	n/a	chr1:228269763-228269773 chr1:228269970-228269981 chr1:228270033-228270043 chr1:228269970-228269980 chr1:228269972-228269979

No.	Distal block	Cell Line	Cell type
1	chr1:227921488..227923041-chr1:228269667..228272192,2	MCF-7	breast:
2	chr1:228268869..228271597-chr1:228699816..228701498,2	K562	blood:
3	chr1:228267816..228271023-chr1:228334433..228337364,3	K562	blood:
4	chr1:228269292..228271024-chr1:228643891..228647144,3	K562	blood:
5	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:
6	chr1:228268335..228271224-chr1:228352172..228356089,4	K562	blood:
7	chr1:228268894..228271778-chr1:228351302..228354925,4	MCF-7	breast:
8	chr1:228269154..228271874-chr1:228360119..228363775,3	K562	blood:
9	chr1:228269306..228272326-chr1:228326148..228329488,5	MCF-7	breast:
10	chr1:227923000..227925656-chr1:228268639..228271303,2	MCF-7	breast:
11	chr1:228180647..228182707-chr1:228268126..228270057,2	K562	blood:
12	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
13	chr1:228216833..228219202-chr1:228268164..228269847,2	K562	blood:
14	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
15	chr1:228267482..228269833-chr1:228325846..228328403,3	K562	blood:

Variant related genes	Relation type
ARF1	TF binding region
ENSG00000143740	Chromatin interaction
ENSG00000215811	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000154342	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000162910	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3395884	chr1:228269354-228272202	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 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	chr1:228268800-228269800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr1:228268800-228270000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:228269000-228269800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:228269000-228269800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:228269000-228269800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr1:228269000-228269800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:228269000-228269800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr1:228269000-228269800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr1:228269000-228269800	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr1:228269000-228269800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:228269000-228269800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr1:228269000-228270000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:228269000-228270200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:228269000-228270200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:228269000-228271600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:228269000-228272200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:228269200-228269800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr1:228269200-228269800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:228269200-228269800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr1:228269200-228269800	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr1:228269200-228270000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:228269200-228270000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr1:228269200-228270200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:228269200-228270200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:228269200-228270200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:228269200-228270200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:228269200-228271800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:228269200-228272000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:228269200-228272000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:228269200-228272200	Active TSS	Right Atrium	heart
31	chr1:228269200-228272400	Active TSS	NHLF	lung
32	chr1:228269400-228269800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:228269400-228269800	Flanking Active TSS	Fetal Heart	heart
34	chr1:228269400-228271200	Active TSS	Thymus	Thymus
35	chr1:228269400-228271400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:228269400-228271400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:228269400-228271400	Active TSS	A549	lung
38	chr1:228269400-228271400	Active TSS	GM12878-XiMat	blood
39	chr1:228269400-228271800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:228269400-228271800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:228269400-228271800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:228269400-228271800	Active TSS	Fetal Kidney	kidney
43	chr1:228269400-228271800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:228269400-228272000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:228269400-228272000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:228269400-228272000	Active TSS	NH-A	brain
47	chr1:228269400-228272400	Active TSS	HSMM	muscle
48	chr1:228269400-228272600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:228269600-228269800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:228269600-228269800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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