Variant report

Variant	rs11112372
Chromosome Location	chr12:105501182-105501183
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	NFATC1	chr12:105501174-105502162	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:105499892-105502605	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:105500847-105502169	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:105501071-105501786	HCT-116	colon:	n/a	n/a
5	PML	chr12:105501133-105501934	MCF-7	breast:	n/a	n/a
6	MAX	chr12:105500775-105502150	A549	lung:	n/a	chr12:105501493-105501504 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
7	CTCF	chr12:105500881-105502199	K562	blood:	n/a	n/a
8	MAX	chr12:105500861-105502267	HCT-116	colon:	n/a	chr12:105502183-105502190 chr12:105501493-105501504 chr12:105502182-105502191 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
9	POLR2A	chr12:105500883-105502077	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:105500989-105502046	K562	blood:	n/a	n/a
11	POLR2A	chr12:105501043-105501865	HepG2	liver:	n/a	n/a
12	PML	chr12:105500815-105502327	GM12878	blood:	n/a	n/a
13	PBX3	chr12:105501178-105502016	A549	lung:	n/a	n/a
14	CEBPB	chr12:105501087-105502196	Hela-S3	cervix:	n/a	n/a
15	SMC3	chr12:105501011-105502191	Hela-S3	cervix:	n/a	n/a
16	JUND	chr12:105500981-105501745	A549	lung:	n/a	n/a
17	POLR2A	chr12:105501075-105502320	GM12892	blood:	n/a	n/a
18	YY1	chr12:105500920-105502089	GM12878	blood:	n/a	chr12:105501568-105501588
19	MXI1	chr12:105500935-105502090	HepG2	liver:	n/a	n/a
20	HCFC1	chr12:105500852-105502187	K562	blood:	n/a	n/a
21	MYC	chr12:105500463-105501689	MCF10A-Er-Src	breast:	n/a	chr12:105501493-105501504 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
22	POLR2A	chr12:105500991-105501855	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr12:105500849-105502074	K562	blood:	n/a	n/a
24	POLR2A	chr12:105501031-105502126	NB4	blood:	n/a	n/a
25	ZNF263	chr12:105501125-105502229	HEK293-T-REx	kidney:	n/a	n/a
26	MAZ	chr12:105500955-105502202	K562	blood:	n/a	chr12:105502183-105502190 chr12:105501493-105501504 chr12:105502182-105502191 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
27	POLR2A	chr12:105500757-105502344	U87	brain:	n/a	n/a
28	UBTF	chr12:105501022-105502623	K562	blood:	n/a	n/a
29	TCF12	chr12:105500868-105502421	A549	lung:	n/a	chr12:105502059-105502066
30	ZNF143	chr12:105500732-105502093	K562	blood:	n/a	chr12:105501410-105501428 chr12:105501414-105501433
31	MYBL2	chr12:105501146-105502079	HepG2	liver:	n/a	n/a
32	CBX3	chr12:105501072-105502198	K562	blood:	n/a	n/a
33	JUND	chr12:105501009-105502165	K562	blood:	n/a	n/a
34	SIX5	chr12:105501167-105501659	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr12:105500615-105502478	K562	blood:	n/a	chr12:105502183-105502190 chr12:105501493-105501504 chr12:105502182-105502191 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
36	TAF1	chr12:105501169-105501947	MCF-7	breast:	n/a	n/a
37	RFX5	chr12:105500973-105502538	Hela-S3	cervix:	n/a	n/a
38	MAFF	chr12:105500903-105501379	K562	blood:	n/a	chr12:105501160-105501178
39	SIN3A	chr12:105500961-105502373	H1-hESC	embryonic stem cell:	n/a	chr12:105501894-105501907
40	POLR2A	chr12:105500978-105502152	GM19193	blood:	n/a	n/a
41	BCLAF1	chr12:105500916-105502281	GM12878	blood:	n/a	n/a
42	MAFK	chr12:105500961-105501608	IMR90	lung:	n/a	n/a
43	POLR2A	chr12:105501164-105502078	HepG2	liver:	n/a	n/a
44	YY1	chr12:105500789-105502294	SK-N-SH	brain:	n/a	chr12:105501568-105501588
45	TAF1	chr12:105501076-105501831	K562	blood:	n/a	n/a
46	YY1	chr12:105500931-105501933	SK-N-SH	brain:	n/a	chr12:105501568-105501588
47	MXI1	chr12:105500112-105503958	SK-N-SH	brain:	n/a	n/a
48	SIN3AK20	chr12:105501116-105501915	PANC-1	pancreas:	n/a	n/a
49	TAF1	chr12:105500816-105501761	PFSK-1	brain:	n/a	n/a
50	MAX	chr12:105500839-105502217	K562	blood:	n/a	chr12:105502183-105502190 chr12:105501493-105501504 chr12:105502182-105502191 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503

No.	Distal block	Cell Line	Cell type
1	chr12:105500524..105503114-chr12:106640734..106642263,2	MCF-7	breast:
2	chr12:105500938..105501481-chrX:135578828..135579575,2	Hela-S3	cervix:
3	chr12:105500906..105501711-chr14:69445305..69446007,2	HCT-116	colon:
4	chr12:105476762..105478986-chr12:105499431..105503042,4	K562	blood:
5	chr12:105379932..105381513-chr12:105500073..105501775,2	MCF-7	breast:
6	chr12:105501005..105501890-chr19:47615913..47616819,2	NB4	blood:
7	chr12:105501007..105501649-chr18:12884012..12884801,2	Hela-S3	cervix:
8	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
9	chr12:104681104..104682731-chr12:105500276..105502937,2	K562	blood:
10	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
11	chr12:105379411..105381004-chr12:105501090..105502694,2	MCF-7	breast:
12	chr12:105500889..105501737-chr7:100026341..100026846,2	NB4	blood:
13	chr12:105500023..105502355-chr12:105628064..105629909,2	K562	blood:
14	chr12:7052842..7053691-chr12:105500938..105501774,2	Hela-S3	cervix:
15	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:
16	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH1L2-1	chr12:105500702-105501413	NONHSAT030441

Variant related genes	Relation type
KIAA1033	TF binding region
ENSG00000257999	TF binding region
ENSG00000136026	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000102241	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000151131	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000136010	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1014502	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431460	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1057110	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1077896	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10861359	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861361	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1109433	0.81[EUR][1000 genomes]
rs11112369	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112370	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112375	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112376	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112379	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112388	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112409	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112412	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112415	0.84[EUR][1000 genomes]
rs11112416	0.83[EUR][1000 genomes]
rs11112421	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11112423	0.81[EUR][1000 genomes]
rs11112432	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11831854	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11832489	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11834277	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228093	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228948	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230762	0.81[ASN][1000 genomes]
rs12812433	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12815031	0.83[EUR][1000 genomes]
rs12819309	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12830078	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317955	0.83[EUR][1000 genomes]
rs1373552	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1444611	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470381	0.82[EUR][1000 genomes]
rs2272495	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293643	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293644	0.81[EUR][1000 genomes]
rs2464176	0.92[ASN][1000 genomes]
rs28549976	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34075890	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34983773	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35462155	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35672903	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736628	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794222	0.81[EUR][1000 genomes]
rs3794223	0.82[EUR][1000 genomes]
rs3794224	0.81[EUR][1000 genomes]
rs3794227	0.84[EUR][1000 genomes]
rs3817607	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829296	0.81[EUR][1000 genomes]
rs4964125	0.85[EUR][1000 genomes]
rs4964334	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964335	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964336	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964338	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4964339	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964340	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964342	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55908437	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56693261	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73179994	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7485364	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs755604	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs881279	0.83[EUR][1000 genomes]
rs9919746	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr12:105500200-105501400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:105500200-105502400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:105500200-105502400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:105500200-105502800	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr12:105500200-105503000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:105500200-105504000	Active TSS	Brain Anterior Caudate	brain
7	chr12:105500400-105502600	Active TSS	Fetal Brain Female	brain
8	chr12:105500400-105503200	Active TSS	Brain Angular Gyrus	brain
9	chr12:105500400-105503400	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:105500400-105503800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:105500400-105504600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:105500400-105505000	Active TSS	K562	blood
13	chr12:105500600-105501200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:105500600-105501200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:105500600-105501200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:105500600-105501200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:105500600-105501200	Flanking Bivalent TSS/Enh	Dnd41	blood
18	chr12:105500600-105501400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:105500600-105501600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr12:105500600-105501600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:105500600-105501600	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr12:105500600-105502200	Active TSS	Primary T cells from cord blood	blood
23	chr12:105500600-105502200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:105500600-105502400	Active TSS	Brain Substantia Nigra	brain
25	chr12:105500600-105502400	Active TSS	Thymus	Thymus
26	chr12:105500600-105502600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:105500600-105502600	Active TSS	Fetal Muscle Leg	muscle
28	chr12:105500600-105503000	Active TSS	Brain Cingulate Gyrus	brain
29	chr12:105500600-105503000	Active TSS	Fetal Kidney	kidney
30	chr12:105500600-105503200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr12:105500600-105503200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:105500600-105503400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:105500600-105503400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:105500600-105503600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr12:105500600-105503600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:105500600-105503800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:105500600-105503800	Active TSS	Colonic Mucosa	Colon
38	chr12:105500600-105503800	Active TSS	HSMMtube	muscle
39	chr12:105500600-105504200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr12:105500800-105501200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr12:105500800-105501200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:105500800-105501200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:105500800-105501200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:105500800-105501200	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr12:105500800-105501200	Flanking Active TSS	Hela-S3	cervix
46	chr12:105500800-105501200	Flanking Active TSS	NHLF	lung
47	chr12:105500800-105501400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr12:105500800-105501600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:105500800-105501600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:105500800-105501600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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