Variant report

Variant	rs72544298
Chromosome Location	chr2:10265144-10265145
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	E2F4	chr2:10264924-10265147	MCF10A-Er-Src	breast:	n/a	n/a
2	SMC3	chr2:10264470-10265620	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr2:10264642-10265567	U87	brain:	n/a	n/a
4	POLR2A	chr2:10264636-10265562	U87	brain:	n/a	n/a
5	TEAD4	chr2:10264644-10265517	K562	blood:	n/a	n/a
6	STAT3	chr2:10264850-10265243	MCF10A-Er-Src	breast:	n/a	chr2:10265222-10265230 chr2:10265094-10265105
7	HEY1	chr2:10260091-10268046	K562	blood:	n/a	chr2:10262408-10262423 chr2:10262559-10262574 chr2:10262366-10262381 chr2:10260481-10260496 chr2:10262702-10262717 chr2:10262368-10262383 chr2:10262406-10262421 chr2:10260417-10260432
8	CTCF	chr2:10264595-10265165	HCT-116	colon:	n/a	n/a
9	FOS	chr2:10264760-10265263	MCF10A-Er-Src	breast:	n/a	chr2:10265073-10265083 chr2:10265073-10265083
10	FOXA1	chr2:10264635-10265178	HepG2	liver:	n/a	n/a
11	RAD21	chr2:10264536-10265219	A549	lung:	n/a	n/a
12	POLR2A	chr2:10260062-10270747	GM19099	blood:	n/a	n/a
13	POLR2A	chr2:10260138-10270672	GM12878	blood:	n/a	n/a
14	FOS	chr2:10264827-10265221	MCF10A-Er-Src	breast:	n/a	chr2:10265073-10265083 chr2:10265073-10265083
15	STAT3	chr2:10264841-10265279	MCF10A-Er-Src	breast:	n/a	chr2:10265222-10265230 chr2:10265094-10265105
16	MYC	chr2:10264818-10265232	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr2:10264667-10265147	HepG2	liver:	n/a	n/a
18	CTCF	chr2:10263913-10265542	A549	lung:	n/a	n/a
19	BCLAF1	chr2:10264529-10267199	K562	blood:	n/a	n/a
20	POLR2A	chr2:10260053-10270807	PBDE	blood:	n/a	n/a
21	POLR2A	chr2:10264631-10265208	GM12892	blood:	n/a	n/a
22	GTF2F1	chr2:10264784-10265155	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr2:10264980-10265193	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr2:10260119-10270949	K562	blood:	n/a	n/a
25	RAD21	chr2:10264535-10265235	HCT-116	colon:	n/a	n/a
26	TBL1XR1	chr2:10264934-10265532	K562	blood:	n/a	n/a
27	PML	chr2:10264861-10265671	K562	blood:	n/a	n/a
28	POLR2A	chr2:10265034-10268100	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:10264681-10270286	GM12892	blood:	n/a	n/a
30	POLR2A	chr2:10264985-10266675	SK-N-MC	brain:	n/a	n/a
31	CTCF	chr2:10263484-10265639	SK-N-SH	brain:	n/a	n/a
32	FOS	chr2:10264831-10265248	MCF10A-Er-Src	breast:	n/a	chr2:10265073-10265083 chr2:10265073-10265083
33	POLR2A	chr2:10264880-10265308	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:10264786-10266250	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:10264450-10267907	GM12878	blood:	n/a	n/a
36	RAD21	chr2:10264654-10265263	IMR90	lung:	n/a	n/a
37	POLR2A	chr2:10264629-10270665	K562	blood:	n/a	n/a
38	CTCF	chr2:10265080-10265230	WI-38	lung:	n/a	n/a
39	POLR2A	chr2:10264967-10265678	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr2:10264822-10265157	HepG2	liver:	n/a	chr2:10265073-10265083 chr2:10265073-10265083
41	RAD21	chr2:10264492-10265200	HCT-116	colon:	n/a	n/a
42	FOS	chr2:10264754-10265265	MCF10A-Er-Src	breast:	n/a	chr2:10265073-10265083 chr2:10265073-10265083
43	POLR2A	chr2:10259983-10270632	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr2:10264441-10265524	SK-N-SH	brain:	n/a	n/a
45	STAT3	chr2:10264751-10265263	MCF10A-Er-Src	breast:	n/a	chr2:10265222-10265230 chr2:10265094-10265105
46	CEBPB	chr2:10264980-10265358	IMR90	lung:	n/a	n/a
47	POLR2A	chr2:10265070-10265493	HepG2	liver:	n/a	n/a
48	CTCF	chr2:10265140-10265290	GM12864	blood:	n/a	n/a
49	POLR2A	chr2:10260177-10269977	K562	blood:	n/a	n/a
50	FOSL2	chr2:10264753-10265391	SK-N-SH	brain:	n/a	chr2:10265073-10265083 chr2:10265073-10265083

No.	Distal block	Cell Line	Cell type
1	chr2:10239900..10242865-chr2:10264207..10266171,2	K562	blood:
2	chr2:10215595..10217272-chr2:10263432..10266266,3	K562	blood:
3	chr2:10264613..10265297-chr2:10575160..10575706,2	MCF-7	breast:
4	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
5	chr2:10265098..10266000-chr2:10549288..10549837,2	MCF-7	breast:
6	chr10:104286499..104288000-chr2:10264908..10266572,2	K562	blood:
7	chr2:10264725..10265442-chr2:10281264..10281946,3	MCF-7	breast:
8	chr2:10212808..10214371-chr2:10264025..10265652,2	MCF-7	breast:

Variant related genes	Relation type
RRM2	TF binding region
ENSG00000163009	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1138729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691833	1.00[ASN][1000 genomes]
rs13395772	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669529	1.00[ASN][1000 genomes]
rs4669534	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669536	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669537	0.82[EUR][1000 genomes]
rs6432063	1.00[ASN][1000 genomes]
rs73167392	1.00[ASN][1000 genomes]
rs7574663	1.00[ASN][1000 genomes]
rs7582263	1.00[ASN][1000 genomes]
rs7585544	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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 target site	76 gene(s)	inside rSNPs	diseases
7	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10260600-10265200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:10262800-10270400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr2:10263400-10265400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10263400-10267000	Weak transcription	Pancreas	Pancrea
5	chr2:10263600-10265200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr2:10263600-10265200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:10263600-10265400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:10263600-10265400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
9	chr2:10263600-10265400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr2:10263600-10265400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
11	chr2:10263600-10265400	Transcr. at gene 5' and 3'	A549	lung
12	chr2:10263600-10265400	Transcr. at gene 5' and 3'	K562	blood
13	chr2:10263600-10266400	Weak transcription	Liver	Liver
14	chr2:10263800-10265200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
15	chr2:10263800-10265400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:10263800-10266600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
17	chr2:10263800-10267000	Weak transcription	Right Atrium	heart
18	chr2:10263800-10272200	Weak transcription	Gastric	stomach
19	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
20	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
21	chr2:10264000-10265200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:10264000-10265200	Flanking Active TSS	HepG2	liver
23	chr2:10264000-10265400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:10264000-10265400	Active TSS	Fetal Brain Female	brain
25	chr2:10264000-10266000	Active TSS	Brain Germinal Matrix	brain
26	chr2:10264000-10266200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:10264000-10266600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:10264000-10267400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:10264200-10265200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:10264200-10265200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:10264200-10265400	Enhancers	Primary B cells from cord blood	blood
32	chr2:10264200-10265400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:10264200-10265400	Enhancers	Placenta	Placenta
34	chr2:10264200-10265600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:10264200-10265800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:10264200-10268800	Enhancers	Fetal Heart	heart
37	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:10264400-10265200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr2:10264600-10265200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:10264600-10265200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:10264600-10265200	Active TSS	Fetal Stomach	stomach
42	chr2:10264600-10265200	Active TSS	Thymus	Thymus
43	chr2:10264600-10265400	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr2:10264600-10265400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:10264600-10265400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:10264600-10265400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:10264600-10265400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:10264600-10266000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:10264600-10266200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:10264600-10266800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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