Variant report

Variant	rs7582263
Chromosome Location	chr2:10261486-10261487
allele	A/C
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	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
2	POLR2A	chr2:10259419-10264186	PANC-1	pancreas:	n/a	n/a
3	ZMIZ1	chr2:10261337-10263174	K562	blood:	n/a	n/a
4	MBD4	chr2:10259981-10261991	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:10260198-10261676	HepG2	liver:	n/a	n/a
6	MYC	chr2:10260204-10261653	NB4	blood:	n/a	chr2:10261030-10261040 chr2:10261032-10261041 chr2:10260856-10260865 chr2:10261033-10261040 chr2:10261031-10261042 chr2:10260776-10260785 chr2:10261032-10261041 chr2:10261032-10261042 chr2:10261031-10261041
7	NFIC	chr2:10260179-10261935	ECC-1	luminal epithelium:	n/a	n/a
8	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
9	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
10	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
11	BCL3	chr2:10259896-10261656	A549	lung:	n/a	chr2:10261542-10261551
12	TBL1XR1	chr2:10260175-10261658	K562	blood:	n/a	n/a
13	ZNF263	chr2:10260269-10263460	HEK293-T-REx	kidney:	n/a	chr2:10262384-10262393
14	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
15	RELA	chr2:10260213-10261662	GM18951	blood:	n/a	n/a
16	POLR2A	chr2:10260183-10263119	MCF10A-Er-Src	breast:	n/a	n/a
17	ZNF384	chr2:10261281-10261664	K562	blood:	n/a	n/a
18	NFIC	chr2:10260094-10262537	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr2:10260135-10263530	GM12878	blood:	n/a	n/a
20	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
21	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
22	REST	chr2:10260188-10261671	HL-60	blood:	n/a	chr2:10260716-10260729 chr2:10260239-10260252
23	POLR2A	chr2:10259553-10264206	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr2:10260062-10270747	GM19099	blood:	n/a	n/a
25	POLR2A	chr2:10260138-10270672	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:10260131-10264448	GM12878	blood:	n/a	n/a
27	TEAD4	chr2:10259711-10262448	HepG2	liver:	n/a	chr2:10261291-10261300
28	TBP	chr2:10260255-10263088	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:10260117-10264144	K562	blood:	n/a	n/a
30	POLR2A	chr2:10260145-10264061	GM18526	blood:	n/a	n/a
31	POLR2A	chr2:10260136-10264925	GM18951	blood:	n/a	n/a
32	POLR2A	chr2:10260121-10263404	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:10260427-10261723	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:10259824-10263123	K562	blood:	n/a	n/a
35	RELA	chr2:10260200-10261624	GM18505	blood:	n/a	n/a
36	SIN3AK20	chr2:10260001-10263607	HCT-116	colon:	n/a	n/a
37	POLR2A	chr2:10260099-10264428	HL-60	blood:	n/a	n/a
38	POLR2A	chr2:10260053-10270807	PBDE	blood:	n/a	n/a
39	BCL3	chr2:10260116-10262438	A549	lung:	n/a	chr2:10262406-10262419 chr2:10261542-10261551 chr2:10262366-10262379 chr2:10262359-10262372
40	POLR2A	chr2:10260034-10264290	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr2:10260042-10262376	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr2:10260274-10261594	K562	blood:	n/a	n/a
43	MAX	chr2:10259842-10261537	HepG2	liver:	n/a	chr2:10261030-10261040 chr2:10261032-10261041 chr2:10260856-10260865 chr2:10261033-10261040 chr2:10261031-10261042 chr2:10260776-10260785 chr2:10261032-10261041 chr2:10261032-10261042 chr2:10261031-10261041
44	POLR2A	chr2:10260115-10264192	K562	blood:	n/a	n/a
45	MYC	chr2:10260207-10263667	K562	blood:	n/a	chr2:10261030-10261040 chr2:10261032-10261041 chr2:10263195-10263204 chr2:10260856-10260865 chr2:10261033-10261040 chr2:10261031-10261042 chr2:10260776-10260785 chr2:10261032-10261041 chr2:10261032-10261042 chr2:10261031-10261041 chr2:10262177-10262186
46	UBTF	chr2:10261327-10263404	K562	blood:	n/a	n/a
47	POLR2A	chr2:10260209-10262451	GM12891	blood:	n/a	n/a
48	HEY1	chr2:10260168-10263317	HepG2	liver:	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
49	TBP	chr2:10260199-10262169	Hela-S3	cervix:	n/a	n/a
50	MAX	chr2:10260008-10261714	HCT-116	colon:	n/a	chr2:10261030-10261040 chr2:10261032-10261041 chr2:10260856-10260865 chr2:10261033-10261040 chr2:10261031-10261042 chr2:10260776-10260785 chr2:10261032-10261041 chr2:10261032-10261042 chr2:10261031-10261041

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	chr11:62608653..62609572-chr2:10260808..10261494,3	Hela-S3	cervix:
4	chr2:10229570..10231579-chr2:10259868..10261834,2	K562	blood:
5	chr2:9983262..9985223-chr2:10260728..10263822,3	K562	blood:
6	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
7	chr2:10258968..10261511-chr2:10592370..10593995,2	MCF-7	breast:
8	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
9	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
10	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
11	chr2:10181218..10185124-chr2:10258845..10261889,3	MCF-7	breast:
12	chr2:10261012..10261631-chr2:62932184..62932694,2	Hela-S3	cervix:
13	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
14	chr2:9983297..9984997-chr2:10260468..10262228,2	K562	blood:
15	chr2:10217388..10221351-chr2:10260365..10264430,6	K562	blood:
16	chr2:10181815..10186886-chr2:10257895..10263826,12	K562	blood:
17	chr2:10181485..10190041-chr2:10258160..10265104,19	K562	blood:
18	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
19	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
20	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
21	chr2:10135064..10137584-chr2:10260509..10262409,2	K562	blood:
22	chr2:10219909..10221770-chr2:10260612..10262704,2	MCF-7	breast:
23	chr2:10222068..10224764-chr2:10261306..10263979,2	K562	blood:
24	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
25	chr2:10260909..10263628-chr2:10332391..10334618,3	K562	blood:
26	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
27	chr2:10229570..10233123-chr2:10259464..10263291,4	K562	blood:
28	chr2:10260822..10263290-chr5:172330317..172332329,2	MCF-7	breast:
29	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
30	chr2:10091367..10094043-chr2:10260841..10262617,2	K562	blood:
31	chr2:10260223..10262864-chr2:10590912..10592995,2	K562	blood:
32	chr2:9909026..9912481-chr2:10259443..10262566,4	K562	blood:

Variant related genes	Relation type
RRM2	TF binding region
ENSG00000206633	Chromatin interaction
ENSG00000217258	Chromatin interaction
ENSG00000212558	Chromatin interaction
ENSG00000265418	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000233502	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000163009	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000205795	Chromatin interaction
ENSG00000113719	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000271855	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1138729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs11691833	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395772	1.00[ASN][1000 genomes]
rs4669527	1.00[CHB][hapmap]
rs4669529	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669534	1.00[ASN][1000 genomes]
rs4669536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4669545	1.00[CHB][hapmap]
rs6432063	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706848	1.00[CHB][hapmap]
rs72544298	1.00[ASN][1000 genomes]
rs73167392	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587317	1.00[CHB][hapmap]
rs7587529	1.00[CHB][hapmap]
rs7602408	1.00[CHB][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10260000-10261600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr2:10260000-10262000	Active TSS	Fetal Brain Female	brain
3	chr2:10260000-10262600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr2:10260000-10263400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10260000-10263600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:10260000-10263800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:10260000-10264200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:10260200-10261600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:10260200-10261800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:10260200-10262000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:10260200-10262000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:10260200-10262400	Flanking Active TSS	HMEC	breast
13	chr2:10260200-10263200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr2:10260200-10263600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:10260200-10263600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:10260200-10263600	Active TSS	A549	lung
17	chr2:10260200-10263600	Active TSS	K562	blood
18	chr2:10260200-10263800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:10260200-10263800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:10260200-10264200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:10260200-10264200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:10260200-10264400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr2:10260200-10264400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:10260200-10264400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:10260200-10265000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:10260400-10261800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:10260400-10261800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:10260400-10261800	Active TSS	Dnd41	blood
29	chr2:10260400-10261800	Active TSS	GM12878-XiMat	blood
30	chr2:10260400-10264600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:10260600-10263800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:10260600-10265200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:10260800-10261600	Flanking Active TSS	Fetal Lung	lung
34	chr2:10260800-10262000	Flanking Active TSS	NH-A	brain
35	chr2:10260800-10262200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:10260800-10262200	Flanking Active TSS	Thymus	Thymus
37	chr2:10260800-10262400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr2:10260800-10262400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr2:10260800-10262400	Flanking Active TSS	Fetal Thymus	thymus
40	chr2:10260800-10262400	Flanking Active TSS	HUVEC	blood vessel
41	chr2:10260800-10264800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr2:10261000-10261600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:10261000-10261600	Flanking Active TSS	Fetal Stomach	stomach
44	chr2:10261000-10261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:10261000-10261800	Active TSS	Fetal Muscle Trunk	muscle
46	chr2:10261000-10261800	Weak transcription	Gastric	stomach
47	chr2:10261000-10261800	Weak transcription	Pancreas	Pancrea
48	chr2:10261000-10262000	Enhancers	Placenta	Placenta
49	chr2:10261000-10262000	Weak transcription	Left Ventricle	heart
50	chr2:10261000-10262000	Weak transcription	Lung	lung

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