Variant report

Variant	rs72542775
Chromosome Location	chr2:10262036-10262037
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	PML	chr2:10261882-10262489	GM12878	blood:	n/a	n/a
2	SP1	chr2:10260054-10263386	A549	lung:	n/a	chr2:10260485-10260497 chr2:10262403-10262412 chr2:10260481-10260490 chr2:10262398-10262412 chr2:10260439-10260448 chr2:10262401-10262413 chr2:10260482-10260491 chr2:10262402-10262411 chr2:10260438-10260447 chr2:10260482-10260496 chr2:10260487-10260496 chr2:10260482-10260491 chr2:10260477-10260491 chr2:10260481-10260491 chr2:10262401-10262413 chr2:10260480-10260492 chr2:10260487-10260496 chr2:10260481-10260491 chr2:10260485-10260497 chr2:10263302-10263311 chr2:10260437-10260449 chr2:10260437-10260449 chr2:10263304-10263317 chr2:10260480-10260492 chr2:10260579-10260590 chr2:10260439-10260448 chr2:10260486-10260495
3	POLR2A	chr2:10259419-10264186	PANC-1	pancreas:	n/a	n/a
4	ZMIZ1	chr2:10261337-10263174	K562	blood:	n/a	n/a
5	MAX	chr2:10261490-10263449	K562	blood:	n/a	chr2:10263195-10263204 chr2:10262177-10262186
6	TAF1	chr2:10261715-10263405	K562	blood:	n/a	n/a
7	MYC	chr2:10262013-10262099	K562	blood:	n/a	n/a
8	SMARCB1	chr2:10261831-10263794	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr2:10261893-10263599	ECC-1	luminal epithelium:	n/a	chr2:10262221-10262232
10	ZBTB33	chr2:10261857-10263078	A549	lung:	n/a	chr2:10262541-10262551 chr2:10262544-10262554
11	POLR2A	chr2:10261832-10263353	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr2:10261521-10263571	H1-hESC	embryonic stem cell:	n/a	chr2:10263286-10263298 chr2:10263232-10263243 chr2:10263232-10263243 chr2:10262368-10262378 chr2:10262230-10262238 chr2:10263232-10263243 chr2:10263232-10263243 chr2:10263236-10263243 chr2:10263229-10263246 chr2:10263287-10263294 chr2:10262228-10262239 chr2:10262825-10262836 chr2:10262402-10262411 chr2:10262229-10262239 chr2:10263287-10263294 chr2:10262231-10262238 chr2:10263233-10263248 chr2:10263227-10263242 chr2:10263287-10263294 chr2:10262230-10262238 chr2:10263232-10263243 chr2:10263235-10263243
13	ATF3	chr2:10261510-10262268	A549	lung:	n/a	n/a
14	JUND	chr2:10261791-10263084	K562	blood:	n/a	chr2:10262401-10262410 chr2:10262054-10262065
15	MAX	chr2:10261836-10263584	H1-hESC	embryonic stem cell:	n/a	chr2:10263195-10263204 chr2:10262177-10262186
16	POLR2A	chr2:10261972-10263302	HUVEC	blood vessel:	n/a	n/a
17	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
18	E2F6	chr2:10261849-10263476	K562	blood:	n/a	chr2:10263286-10263298 chr2:10263232-10263243 chr2:10263232-10263243 chr2:10262368-10262378 chr2:10262230-10262238 chr2:10263232-10263243 chr2:10263232-10263243 chr2:10263236-10263243 chr2:10263229-10263246 chr2:10263287-10263294 chr2:10262228-10262239 chr2:10262825-10262836 chr2:10262402-10262411 chr2:10262229-10262239 chr2:10263287-10263294 chr2:10262231-10262238 chr2:10263233-10263248 chr2:10263227-10263242 chr2:10263287-10263294 chr2:10262230-10262238 chr2:10263232-10263243 chr2:10263235-10263243
19	IRF1	chr2:10260158-10263117	K562	blood:	n/a	chr2:10260480-10260494 chr2:10260485-10260499 chr2:10262401-10262415 chr2:10260437-10260451 chr2:10261543-10261552 chr2:10261541-10261551 chr2:10261082-10261099
20	TCF7L2	chr2:10261904-10262376	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr2:10259836-10262480	A549	lung:	n/a	chr2:10262401-10262410 chr2:10260480-10260489 chr2:10260855-10260865 chr2:10260853-10260864 chr2:10260856-10260864 chr2:10260485-10260494 chr2:10260856-10260864 chr2:10260856-10260863
22	POLR2A	chr2:10261801-10263530	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF263	chr2:10260269-10263460	HEK293-T-REx	kidney:	n/a	chr2:10262384-10262393
24	JUN	chr2:10259967-10263542	K562	blood:	n/a	chr2:10262401-10262410 chr2:10260480-10260489 chr2:10260855-10260865 chr2:10260856-10260864 chr2:10260485-10260494 chr2:10260856-10260864 chr2:10260856-10260863
25	FOXM1	chr2:10261990-10263482	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr2:10261814-10263454	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:10260183-10263119	MCF10A-Er-Src	breast:	n/a	n/a
28	NFIC	chr2:10260094-10262537	SK-N-SH	brain:	n/a	n/a
29	MAX	chr2:10261789-10263540	ECC-1	luminal epithelium:	n/a	chr2:10263195-10263204 chr2:10262177-10262186
30	SIN3AK20	chr2:10261882-10262177	HepG2	liver:	n/a	n/a
31	UBTF	chr2:10261706-10262533	K562	blood:	n/a	n/a
32	MXI1	chr2:10261646-10264915	IMR90	lung:	n/a	n/a
33	MXI1	chr2:10260135-10263530	GM12878	blood:	n/a	n/a
34	E2F4	chr2:10260258-10264398	MCF10A-Er-Src	breast:	n/a	chr2:10263286-10263298 chr2:10263232-10263243 chr2:10263232-10263243 chr2:10262368-10262378 chr2:10262230-10262238 chr2:10260481-10260490 chr2:10263232-10263243 chr2:10263232-10263243 chr2:10263236-10263243 chr2:10263229-10263246 chr2:10263287-10263294 chr2:10262228-10262239 chr2:10262402-10262411 chr2:10262229-10262239 chr2:10263287-10263294 chr2:10262231-10262238 chr2:10263233-10263248 chr2:10260867-10260882 chr2:10263227-10263242 chr2:10263287-10263294 chr2:10262230-10262238 chr2:10263232-10263243 chr2:10263235-10263243 chr2:10262825-10262836
35	MAX	chr2:10261771-10263604	ECC-1	luminal epithelium:	n/a	chr2:10263195-10263204 chr2:10262177-10262186
36	CEBPB	chr2:10261929-10262580	K562	blood:	n/a	n/a
37	JUND	chr2:10261875-10262229	Hela-S3	cervix:	n/a	chr2:10262054-10262065
38	IRF1	chr2:10260028-10263081	K562	blood:	n/a	chr2:10260480-10260494 chr2:10260485-10260499 chr2:10262401-10262415 chr2:10260437-10260451 chr2:10261543-10261552 chr2:10261541-10261551 chr2:10261082-10261099
39	GTF2F1	chr2:10261916-10262241	Hela-S3	cervix:	n/a	n/a
40	POU2F2	chr2:10261830-10262319	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr2:10261913-10263323	ECC-1	luminal epithelium:	n/a	chr2:10262221-10262232
42	POLR2A	chr2:10259553-10264206	PANC-1	pancreas:	n/a	n/a
43	ETS1	chr2:10261489-10263408	A549	lung:	n/a	chr2:10262611-10262620 chr2:10262696-10262705 chr2:10262302-10262313
44	POLR2A	chr2:10260062-10270747	GM19099	blood:	n/a	n/a
45	POLR2A	chr2:10260138-10270672	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:10260131-10264448	GM12878	blood:	n/a	n/a
47	TEAD4	chr2:10259711-10262448	HepG2	liver:	n/a	chr2:10261291-10261300
48	POLR2A	chr2:10261896-10262447	GM12891	blood:	n/a	n/a
49	FOXM1	chr2:10261881-10263272	SK-N-SH	brain:	n/a	n/a
50	MAX	chr2:10261889-10262546	SK-N-SH	brain:	n/a	chr2:10262177-10262186

No.	Distal block	Cell Line	Cell type
1	chr2:9694760..9697440-chr2:10260831..10262693,2	MCF-7	breast:
2	chr2:10260565..10262183-chr2:10281401..10283341,2	MCF-7	breast:
3	chr2:9983262..9985223-chr2:10260728..10263822,3	K562	blood:
4	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
5	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
6	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
7	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
8	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
9	chr2:9983297..9984997-chr2:10260468..10262228,2	K562	blood:
10	chr2:10261562..10263628-chr2:10332391..10333942,2	K562	blood:
11	chr2:10217388..10221351-chr2:10260365..10264430,6	K562	blood:
12	chr2:10181815..10186886-chr2:10257895..10263826,12	K562	blood:
13	chr2:10181485..10190041-chr2:10258160..10265104,19	K562	blood:
14	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
15	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
16	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
17	chr2:10182809..10185071-chr2:10261991..10263522,2	MCF-7	breast:
18	chr2:10135064..10137584-chr2:10260509..10262409,2	K562	blood:
19	chr2:10219909..10221770-chr2:10260612..10262704,2	MCF-7	breast:
20	chr2:10222068..10224764-chr2:10261306..10263979,2	K562	blood:
21	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
22	chr2:10260909..10263628-chr2:10332391..10334618,3	K562	blood:
23	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
24	chr2:10229570..10233123-chr2:10259464..10263291,4	K562	blood:
25	chr2:10260822..10263290-chr5:172330317..172332329,2	MCF-7	breast:
26	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
27	chr2:10091367..10094043-chr2:10260841..10262617,2	K562	blood:
28	chr2:10260223..10262864-chr2:10590912..10592995,2	K562	blood:
29	chr2:9909026..9912481-chr2:10259443..10262566,4	K562	blood:

Variant related genes	Relation type
RRM2	TF binding region
ENSG00000134308	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000163009	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000233502	Chromatin interaction
ENSG00000212558	Chromatin interaction
ENSG00000113719	Chromatin interaction
ENSG00000205795	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000217258	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000265418	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs4669559	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs55902618	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs56277911	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72771623	1.00[ASN][1000 genomes]
rs72771625	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]
rs7601478	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10260000-10262600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr2:10260000-10263400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:10260000-10263600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:10260000-10263800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr2:10260000-10264200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:10260200-10262400	Flanking Active TSS	HMEC	breast
7	chr2:10260200-10263200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr2:10260200-10263600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:10260200-10263600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:10260200-10263600	Active TSS	A549	lung
11	chr2:10260200-10263600	Active TSS	K562	blood
12	chr2:10260200-10263800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:10260200-10263800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:10260200-10264200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:10260200-10264200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:10260200-10264400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:10260200-10264400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:10260200-10264400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:10260200-10265000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:10260400-10264600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:10260600-10263800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:10260600-10265200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:10260800-10262200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:10260800-10262200	Flanking Active TSS	Thymus	Thymus
25	chr2:10260800-10262400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:10260800-10262400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:10260800-10262400	Flanking Active TSS	Fetal Thymus	thymus
28	chr2:10260800-10262400	Flanking Active TSS	HUVEC	blood vessel
29	chr2:10260800-10264800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr2:10261000-10262200	Enhancers	Spleen	Spleen
31	chr2:10261000-10262400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:10261000-10262400	Weak transcription	Aorta	Aorta
33	chr2:10261000-10262400	Flanking Active TSS	Osteobl	bone
34	chr2:10261000-10262600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr2:10261000-10262600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:10261000-10263200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr2:10261000-10263600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr2:10261200-10262200	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:10261200-10262200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:10261200-10262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:10261200-10262200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:10261200-10262200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:10261200-10262200	Enhancers	Brain Substantia Nigra	brain
44	chr2:10261200-10262200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:10261200-10262200	Weak transcription	Right Ventricle	heart
46	chr2:10261200-10262200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:10261200-10262200	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr2:10261200-10262400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:10261200-10262400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr2:10261200-10263000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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