Variant report

Variant	rs2305047
Chromosome Location	chr12:105501547-105501548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:535)
CpG islands
(count:183)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	FOS	chr12:105501344-105501644	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:105500847-105502169	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:105501071-105501786	HCT-116	colon:	n/a	n/a
6	PML	chr12:105501133-105501934	MCF-7	breast:	n/a	n/a
7	FOXP2	chr12:105501242-105501788	PFSK-1	brain:	n/a	n/a
8	MAX	chr12:105500775-105502150	A549	lung:	n/a	chr12:105501493-105501504 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
9	SIX5	chr12:105501220-105501631	K562	blood:	n/a	n/a
10	CTCF	chr12:105500881-105502199	K562	blood:	n/a	n/a
11	SIN3A	chr12:105501216-105502127	GM12878	blood:	n/a	chr12:105501894-105501907
12	GABPA	chr12:105501195-105501937	A549	lung:	n/a	n/a
13	POLR2A	chr12:105501226-105501996	A549	lung:	n/a	n/a
14	USF1	chr12:105501316-105501693	HepG2	liver:	n/a	chr12:105501494-105501503 chr12:105501492-105501503 chr12:105501494-105501503 chr12:105501493-105501502
15	TCF7L2	chr12:105501354-105502083	PANC-1	pancreas:	n/a	n/a
16	GTF2B	chr12:105501312-105501649	K562	blood:	n/a	n/a
17	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
18	POLR2A	chr12:105500883-105502077	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:105500989-105502046	K562	blood:	n/a	n/a
20	POLR2A	chr12:105501043-105501865	HepG2	liver:	n/a	n/a
21	PML	chr12:105500815-105502327	GM12878	blood:	n/a	n/a
22	PBX3	chr12:105501178-105502016	A549	lung:	n/a	n/a
23	CEBPB	chr12:105501087-105502196	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr12:105501011-105502191	Hela-S3	cervix:	n/a	n/a
25	SRF	chr12:105501189-105501795	ECC-1	luminal epithelium:	n/a	chr12:105501222-105501235
26	JUND	chr12:105500981-105501745	A549	lung:	n/a	n/a
27	POLR2A	chr12:105501075-105502320	GM12892	blood:	n/a	n/a
28	YY1	chr12:105500920-105502089	GM12878	blood:	n/a	chr12:105501568-105501588
29	CTCF	chr12:105501526-105501587	GM19238	blood:	n/a	n/a
30	MXI1	chr12:105500935-105502090	HepG2	liver:	n/a	n/a
31	FOSL2	chr12:105501334-105501754	A549	lung:	n/a	n/a
32	HCFC1	chr12:105500852-105502187	K562	blood:	n/a	n/a
33	MYC	chr12:105500463-105501689	MCF10A-Er-Src	breast:	n/a	chr12:105501493-105501504 chr12:105501493-105501504 chr12:105501492-105501500 chr12:105501494-105501503
34	REST	chr12:105501212-105501884	SK-N-SH	brain:	n/a	chr12:105501432-105501445 chr12:105501648-105501661
35	POLR2A	chr12:105500991-105501855	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr12:105500849-105502074	K562	blood:	n/a	n/a
37	POLR2A	chr12:105501031-105502126	NB4	blood:	n/a	n/a
38	ZNF263	chr12:105501125-105502229	HEK293-T-REx	kidney:	n/a	n/a
39	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
40	USF1	chr12:105501330-105501606	HepG2	liver:	n/a	chr12:105501494-105501503 chr12:105501492-105501503 chr12:105501494-105501503 chr12:105501493-105501502
41	POLR2A	chr12:105500757-105502344	U87	brain:	n/a	n/a
42	UBTF	chr12:105501022-105502623	K562	blood:	n/a	n/a
43	POLR2A	chr12:105501221-105501812	HepG2	liver:	n/a	n/a
44	TCF12	chr12:105500868-105502421	A549	lung:	n/a	chr12:105502059-105502066
45	CBX3	chr12:105501264-105501719	K562	blood:	n/a	n/a
46	ZNF143	chr12:105500732-105502093	K562	blood:	n/a	chr12:105501410-105501428 chr12:105501414-105501433
47	SIN3AK20	chr12:105501216-105501912	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYBL2	chr12:105501146-105502079	HepG2	liver:	n/a	n/a
49	CBX3	chr12:105501072-105502198	K562	blood:	n/a	n/a
50	JUND	chr12:105501009-105502165	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:105501526-105501576	HRPEpiC	eye:	n/a
2	chr12:105501532-105501582	AG10803	skin:	n/a
3	chr12:105501526-105501576	NT2-D1	testis:	n/a
4	chr12:105501532-105501582	Caco-2	colon:	n/a
5	chr12:105501529-105501579	NHBE	bronchial:	n/a
6	chr12:105501532-105501582	NT2-D1	testis:	n/a
7	chr12:105501529-105501579	AG04450	lung:	fetal
8	chr12:105501529-105501579	HMEC	breast:	n/a
9	chr12:105501532-105501582	BJ	skin:	n/a
10	chr12:105501532-105501582	U87	brain:	n/a
11	chr12:105501532-105501582	HIPEpiC	eye:	n/a
12	chr12:105501529-105501579	MCF10A-Er-Src	breast:	n/a
13	chr12:105501532-105501582	HCPEpiC	choroid plexus:	n/a
14	chr12:105501532-105501582	Hepatocyte	liver:	n/a
15	chr12:105501529-105501579	AoSMC	blood vessel:	n/a
16	chr12:105501532-105501582	HUVEC	blood vessel:	n/a
17	chr12:105501532-105501582	GM12891	blood:	n/a
18	chr12:105501529-105501579	NB4	blood:	n/a
19	chr12:105501529-105501579	NHDF-neo	bronchial:	n/a
20	chr12:105501532-105501582	ProgFib	skin:	n/a
21	chr12:105501532-105501582	PrEC	prostate:	n/a
22	chr12:105501526-105501576	HUVEC	blood vessel:	n/a
23	chr12:105501532-105501582	A549	lung:	n/a
24	chr12:105501526-105501576	CMK	blood:	n/a
25	chr12:105501532-105501582	PFSK-1	brain:	n/a
26	chr12:105501529-105501579	HRCEpiC	kidney:	n/a
27	chr12:105501529-105501579	SKMC	muscle:	n/a
28	chr12:105501526-105501576	GM06990	blood:	n/a
29	chr12:105501526-105501576	K562	blood:	n/a
30	chr12:105501529-105501579	GM12891	blood:	n/a
31	chr12:105501526-105501576	SK-N-MC	brain:	n/a
32	chr12:105501526-105501576	SK-N-SH_RA	brain:	n/a
33	chr12:105501529-105501579	H1-hESC	embryonic stem cell:	embryo
34	chr12:105501526-105501576	HCF	heart:	n/a
35	chr12:105501526-105501576	Hela-S3	cervix:	n/a
36	chr12:105501526-105501576	PFSK-1	brain:	n/a
37	chr12:105501532-105501582	AG04449	skin:	fetal
38	chr12:105501532-105501582	AoSMC	blood vessel:	n/a
39	chr12:105501532-105501582	NB4	blood:	n/a
40	chr12:105501532-105501582	IMR90	lung:	fetal
41	chr12:105501529-105501579	ECC-1	luminal epithelium:	n/a
42	chr12:105501529-105501579	PANC-1	pancreas:	n/a
43	chr12:105501532-105501582	NHDF-neo	bronchial:	n/a
44	chr12:105501526-105501576	ProgFib	skin:	n/a
45	chr12:105501532-105501582	SK-N-SH	brain:	n/a
46	chr12:105501526-105501576	PANC-1	pancreas:	n/a
47	chr12:105501529-105501579	NT2-D1	testis:	n/a
48	chr12:105501526-105501576	AG10803	skin:	n/a
49	chr12:105501529-105501579	HL-60	blood:	n/a
50	chr12:105501526-105501576	AG09319	gingival:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105476808..105479481-chr12:105501524..105503382,3	K562	blood:
2	chr12:105500524..105503114-chr12:106640734..106642263,2	MCF-7	breast:
3	chr10:134210679..134211538-chr12:105501384..105502343,2	Hela-S3	cervix:
4	chr12:105500906..105501711-chr14:69445305..69446007,2	HCT-116	colon:
5	chr12:105476762..105478986-chr12:105499431..105503042,4	K562	blood:
6	chr12:105501540..105503183-chr12:105627693..105630661,2	MCF-7	breast:
7	chr12:105379932..105381513-chr12:105500073..105501775,2	MCF-7	breast:
8	chr12:105501005..105501890-chr19:47615913..47616819,2	NB4	blood:
9	chr12:105501007..105501649-chr18:12884012..12884801,2	Hela-S3	cervix:
10	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
11	chr12:104681104..104682731-chr12:105500276..105502937,2	K562	blood:
12	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
13	chr12:105477899..105479847-chr12:105501301..105502988,2	MCF-7	breast:
14	chr12:105379411..105381004-chr12:105501090..105502694,2	MCF-7	breast:
15	chr12:105500889..105501737-chr7:100026341..100026846,2	NB4	blood:
16	chr12:105501485..105502267-chr18:3653286..3653891,2	Hela-S3	cervix:
17	chr12:105500023..105502355-chr12:105628064..105629909,2	K562	blood:
18	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
19	chr12:105501229..105503953-chr12:105621352..105624637,3	MCF-7	breast:
20	chr12:7052842..7053691-chr12:105500938..105501774,2	Hela-S3	cervix:
21	chr12:104521574..104524477-chr12:105501454..105503015,2	MCF-7	breast:
22	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:
23	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:

No data

Variant related genes	Relation type
KIAA1033	TF binding region
ENSG00000257999	TF binding region
KIAA1033	CpG island
ENSG00000257999	CpG island
ENSG00000136026	Chromatin interaction
ENSG00000171813	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000266401	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000151131	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000136010	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000111678	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1196795	0.84[JPT][hapmap]
rs1196797	0.84[JPT][hapmap]
rs1196798	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1196811	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1345096	0.81[ASN][1000 genomes]
rs17036705	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17036728	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272491	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289773	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2293642	0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2374449	0.81[ASN][1000 genomes]
rs3763992	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3794234	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3794235	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3817608	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964331	0.81[ASN][1000 genomes]
rs61005937	1.00[EUR][1000 genomes]
rs6539188	0.81[ASN][1000 genomes]
rs6539190	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539193	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132624	0.81[ASN][1000 genomes]
rs7299701	0.81[ASN][1000 genomes]
rs73395721	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9788027	1.00[EUR][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	chr12:105500200-105502400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:105500200-105502400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:105500200-105502800	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr12:105500200-105503000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:105500200-105504000	Active TSS	Brain Anterior Caudate	brain
6	chr12:105500400-105502600	Active TSS	Fetal Brain Female	brain
7	chr12:105500400-105503200	Active TSS	Brain Angular Gyrus	brain
8	chr12:105500400-105503400	Active TSS	Stomach Smooth Muscle	stomach
9	chr12:105500400-105503800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:105500400-105504600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:105500400-105505000	Active TSS	K562	blood
12	chr12:105500600-105501600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr12:105500600-105501600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:105500600-105501600	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr12:105500600-105502200	Active TSS	Primary T cells from cord blood	blood
16	chr12:105500600-105502200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:105500600-105502400	Active TSS	Brain Substantia Nigra	brain
18	chr12:105500600-105502400	Active TSS	Thymus	Thymus
19	chr12:105500600-105502600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:105500600-105502600	Active TSS	Fetal Muscle Leg	muscle
21	chr12:105500600-105503000	Active TSS	Brain Cingulate Gyrus	brain
22	chr12:105500600-105503000	Active TSS	Fetal Kidney	kidney
23	chr12:105500600-105503200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:105500600-105503200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:105500600-105503400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:105500600-105503400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:105500600-105503600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:105500600-105503600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr12:105500600-105503800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:105500600-105503800	Active TSS	Colonic Mucosa	Colon
31	chr12:105500600-105503800	Active TSS	HSMMtube	muscle
32	chr12:105500600-105504200	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:105500800-105501600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:105500800-105501600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:105500800-105501600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:105500800-105502200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:105500800-105502200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:105500800-105502200	Active TSS	Duodenum Mucosa	Duodenum
39	chr12:105500800-105502400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:105500800-105502400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:105500800-105502400	Active TSS	Fetal Heart	heart
42	chr12:105500800-105502400	Active TSS	Fetal Stomach	stomach
43	chr12:105500800-105502400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr12:105500800-105502400	Active TSS	Osteobl	bone
45	chr12:105500800-105502600	Active TSS	Primary T cells fromperipheralblood	blood
46	chr12:105500800-105502600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:105500800-105502600	Active TSS	Liver	Liver
48	chr12:105500800-105502600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:105500800-105502600	Active TSS	Fetal Lung	lung
50	chr12:105500800-105502600	Active TSS	Placenta	Placenta

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