Variant report

Variant	rs11051032
Chromosome Location	chr12:30844356-30844357
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	CTCF	chr12:30844188-30844358	Fibrobl	skin:	n/a	n/a
2	RAD21	chr12:30844134-30844430	Hela-S3	cervix:	n/a	chr12:30844332-30844344 chr12:30844263-30844276
3	E2F4	chr12:30844304-30844685	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr12:30844240-30844390	HBMEC	blood vessel:	n/a	n/a
5	USF2	chr12:30844124-30844383	Hela-S3	cervix:	n/a	n/a
6	ARID3A	chr12:30844180-30844644	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:30844036-30844442	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:30843786-30844502	MCF10A-Er-Src	breast:	n/a	n/a
9	SMC3	chr12:30844131-30844378	Hela-S3	cervix:	n/a	chr12:30844264-30844278
10	GTF2F1	chr12:30844140-30844517	Hela-S3	cervix:	n/a	n/a
11	JUND	chr12:30844048-30844381	K562	blood:	n/a	chr12:30844223-30844232
12	MAFK	chr12:30844237-30844437	Hela-S3	cervix:	n/a	n/a
13	MAX	chr12:30844093-30844415	Hela-S3	cervix:	n/a	n/a
14	SMC3	chr12:30844220-30844631	HepG2	liver:	n/a	chr12:30844264-30844278
15	STAT3	chr12:30844180-30844410	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr12:30844072-30844402	MCF10A-Er-Src	breast:	n/a	n/a
17	BHLHE40	chr12:30844107-30844476	HepG2	liver:	n/a	n/a
18	CTCF	chr12:30844220-30844370	SAEC	small airway:	n/a	n/a
19	FOS	chr12:30844036-30844490	MCF10A-Er-Src	breast:	n/a	chr12:30844223-30844232
20	SIN3AK20	chr12:30844119-30844633	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr12:30844161-30844369	Gliobla	brain:	n/a	n/a
22	RCOR1	chr12:30844078-30844432	K562	blood:	n/a	n/a
23	FOSL1	chr12:30844048-30844399	K562	blood:	n/a	chr12:30844223-30844232
24	CEBPB	chr12:30844087-30844386	IMR90	lung:	n/a	n/a
25	ZEB1	chr12:30844207-30844692	HepG2	liver:	n/a	chr12:30844361-30844372
26	CTCF	chr12:30844260-30844410	HMF	breast:	n/a	n/a
27	FOSL2	chr12:30843935-30844534	SK-N-SH	brain:	n/a	chr12:30844223-30844232
28	FOS	chr12:30844029-30844401	MCF10A-Er-Src	breast:	n/a	chr12:30844223-30844232
29	FOS	chr12:30844072-30844407	MCF10A-Er-Src	breast:	n/a	chr12:30844223-30844232
30	STAT3	chr12:30844097-30844376	MCF10A-Er-Src	breast:	n/a	n/a
31	TCF12	chr12:30843941-30844733	SK-N-SH	brain:	n/a	chr12:30844260-30844270
32	MAX	chr12:30843997-30844629	SK-N-SH	brain:	n/a	n/a
33	MAX	chr12:30843999-30844648	SK-N-SH	brain:	n/a	n/a
34	PBX3	chr12:30844035-30844748	SK-N-SH	brain:	n/a	n/a
35	FOS	chr12:30844056-30844657	MCF10A-Er-Src	breast:	n/a	chr12:30844223-30844232
36	MYC	chr12:30843853-30844380	MCF10A-Er-Src	breast:	n/a	n/a
37	TEAD4	chr12:30844273-30844723	HepG2	liver:	n/a	chr12:30844497-30844506
38	BHLHE40	chr12:30844074-30844488	K562	blood:	n/a	n/a
39	TCF12	chr12:30843889-30844814	SK-N-SH	brain:	n/a	chr12:30844260-30844270
40	MAX	chr12:30844091-30844393	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30840570..30842757-chr12:30843253..30846337,3	K562	blood:
3	chr12:30835899..30838387-chr12:30843101..30844801,2	MCF-7	breast:

Variant related genes	Relation type
IPO8	TF binding region
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10431223	0.84[EUR][1000 genomes]
rs11050960	0.84[EUR][1000 genomes]
rs11050962	0.84[EUR][1000 genomes]
rs11050963	0.84[EUR][1000 genomes]
rs11050964	0.84[EUR][1000 genomes]
rs11050965	0.84[EUR][1000 genomes]
rs11050975	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050976	0.84[EUR][1000 genomes]
rs11050978	0.84[EUR][1000 genomes]
rs11050979	0.84[EUR][1000 genomes]
rs11050980	0.84[EUR][1000 genomes]
rs11050981	0.84[EUR][1000 genomes]
rs11050982	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050995	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11050996	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050997	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050998	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050999	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051000	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051001	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051004	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051017	1.00[ASN][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051040	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051060	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051067	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11534760	0.84[EUR][1000 genomes]
rs11561156	0.84[EUR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11613738	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12228212	0.84[EUR][1000 genomes]
rs12229358	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12229986	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12230490	0.84[EUR][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906574	0.84[EUR][1000 genomes]
rs16906582	0.84[EUR][1000 genomes]
rs16906596	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16906601	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16906606	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16906758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16916147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2101288	1.00[AMR][1000 genomes]
rs2114900	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3850958	0.84[EUR][1000 genomes]
rs3850959	0.84[ASN][1000 genomes]
rs3888018	0.82[JPT][hapmap]
rs3889761	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57735299	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60712960	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7970293	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7977562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:30785000-30847800	Weak transcription	Gastric	stomach
3	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
4	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:30815400-30845800	Weak transcription	Fetal Brain Male	brain
6	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:30821800-30847400	Weak transcription	Lung	lung
8	chr12:30822000-30846600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:30822600-30845600	Weak transcription	Right Ventricle	heart
10	chr12:30822600-30846400	Weak transcription	Esophagus	oesophagus
11	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
12	chr12:30826000-30845600	Weak transcription	Brain Germinal Matrix	brain
13	chr12:30827000-30847000	Weak transcription	Colonic Mucosa	Colon
14	chr12:30830400-30846600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:30831800-30845600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:30831800-30845600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:30831800-30846400	Weak transcription	Thymus	Thymus
18	chr12:30831800-30846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:30831800-30846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:30832200-30846800	Weak transcription	Fetal Stomach	stomach
21	chr12:30832400-30845200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:30832600-30845600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:30833000-30845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:30833200-30845400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:30833400-30845600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:30833400-30845600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:30833600-30846600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:30833600-30847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:30834600-30845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:30834800-30846400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:30834800-30847000	Weak transcription	Stomach Mucosa	stomach
32	chr12:30836200-30845600	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:30836600-30846400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:30836800-30844600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:30837400-30846400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:30837400-30847000	Weak transcription	Fetal Thymus	thymus
37	chr12:30837600-30845200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:30837600-30845600	Weak transcription	Primary T cells from cord blood	blood
39	chr12:30837600-30845600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:30837600-30845600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:30837600-30845800	Weak transcription	Fetal Brain Female	brain
42	chr12:30837600-30846400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:30837600-30846600	Weak transcription	Fetal Kidney	kidney
44	chr12:30837600-30847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:30837800-30845600	Weak transcription	Fetal Lung	lung
46	chr12:30838200-30846400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:30838400-30847400	Weak transcription	Placenta	Placenta
48	chr12:30838600-30847400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:30838800-30844400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:30838800-30846200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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