Variant report

Variant	rs10845178
Chromosome Location	chr12:7592829-7592830
allele	G/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	chr12:7592780-7592930	Caco-2	colon:	n/a	n/a
2	SMC3	chr12:7592785-7592939	K562	blood:	n/a	chr12:7592835-7592845
3	MYC	chr12:7592320-7593018	MCF-7	breast:	n/a	n/a
4	TEAD4	chr12:7592358-7593118	H1-hESC	embryonic stem cell:	n/a	n/a
5	IRF1	chr12:7592452-7593171	K562	blood:	n/a	chr12:7592472-7592486 chr12:7593139-7593155
6	CEBPB	chr12:7592776-7592883	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr12:7592581-7592950	K562	blood:	n/a	n/a
8	CTCF	chr12:7592451-7593173	A549	lung:	n/a	n/a
9	CTCF	chr12:7592760-7593001	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr12:7592400-7593106	K562	blood:	n/a	n/a
11	TEAD4	chr12:7592370-7592911	K562	blood:	n/a	n/a
12	POLR2A	chr12:7592330-7593031	A549	lung:	n/a	n/a
13	POLR2A	chr12:7592518-7593067	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr12:7592780-7592930	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr12:7592795-7592884	SK-N-SH_RA	brain:	n/a	n/a
16	RAD21	chr12:7592701-7592966	A549	lung:	n/a	n/a
17	CTCF	chr12:7592760-7592910	SAEC	small airway:	n/a	n/a
18	ZNF384	chr12:7592608-7593017	K562	blood:	n/a	n/a
19	CTCF	chr12:7592800-7592950	AG04449	skin:	n/a	n/a
20	RCOR1	chr12:7592468-7592983	K562	blood:	n/a	n/a
21	JUND	chr12:7592546-7592882	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr12:7592373-7593114	K562	blood:	n/a	chr12:7592921-7592931
23	SP1	chr12:7592207-7592982	A549	lung:	n/a	chr12:7592474-7592486 chr12:7592476-7592489 chr12:7592476-7592485
24	CTCF	chr12:7592720-7592870	HMF	breast:	n/a	n/a
25	CTCF	chr12:7592619-7593034	K562	blood:	n/a	n/a
26	TBP	chr12:7592371-7593054	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr12:7592439-7592955	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:7592617-7593009	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:7592360-7593009	K562	blood:	n/a	n/a
30	POLR2A	chr12:7592182-7593136	MCF-7	breast:	n/a	n/a
31	POLR2A	chr12:7592302-7593007	K562	blood:	n/a	n/a
32	CTCF	chr12:7592738-7592975	A549	lung:	n/a	n/a
33	EP300	chr12:7592537-7593141	K562	blood:	n/a	chr12:7592928-7592944 chr12:7592921-7592930
34	POLR2A	chr12:7592109-7593151	ProgFib	skin:	n/a	n/a
35	POLR2A	chr12:7592379-7592857	GM12892	blood:	n/a	n/a
36	MYC	chr12:7592387-7593132	K562	blood:	n/a	n/a
37	IRF1	chr12:7592468-7593008	K562	blood:	n/a	chr12:7592472-7592486
38	POLR2A	chr12:7592275-7593020	K562	blood:	n/a	n/a
39	CTCF	chr12:7592730-7592929	K562	blood:	n/a	n/a
40	ATF2	chr12:7592569-7592893	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELF1	chr12:7592761-7593127	K562	blood:	n/a	chr12:7592923-7592932 chr12:7592967-7592980 chr12:7592970-7592979
42	CTCF	chr12:7592733-7593009	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:7592174-7593216	MCF-7	breast:	n/a	n/a
44	NANOG	chr12:7592553-7593059	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr12:7592653-7593016	K562	blood:	n/a	n/a
46	CTCF	chr12:7592731-7592948	IMR90	lung:	n/a	n/a
47	MYC	chr12:7592370-7593113	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:7592282-7592952	H1-hESC	embryonic stem cell:	n/a	n/a
49	TBL1XR1	chr12:7592597-7593033	K562	blood:	n/a	n/a
50	RCOR1	chr12:7592359-7593198	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:7591433..7594130-chr12:7595262..7598140,3	K562	blood:

Variant related genes	Relation type
ENSG00000255836	TF binding region
ENSG00000177675	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10444429	0.84[AMR][1000 genomes]
rs10459096	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10772247	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10772330	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10772331	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10772338	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845124	0.85[AMR][1000 genomes]
rs10845176	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10845177	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11053688	0.83[AMR][1000 genomes]
rs11053769	0.85[AMR][1000 genomes]
rs11053788	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12321231	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58195891	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350216	chr12:7432676-7604018	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7590000-7593400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:7590200-7593200	Active TSS	K562	blood
3	chr12:7591000-7593600	Active TSS	A549	lung
4	chr12:7591200-7593200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:7591200-7593400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:7591800-7593000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:7592000-7593400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:7592200-7593000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:7592200-7593000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:7592200-7593000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:7592200-7593000	Active TSS	Duodenum Mucosa	Duodenum
12	chr12:7592200-7593000	Active TSS	NH-A	brain
13	chr12:7592200-7593200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:7592200-7593200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:7592200-7593200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:7592200-7593200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:7592200-7593200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:7592200-7593200	Active TSS	Fetal Brain Female	brain
19	chr12:7592200-7593200	Active TSS	Osteobl	bone
20	chr12:7592200-7593400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:7592200-7593400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:7592200-7593400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:7592200-7593400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:7592200-7593400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:7592200-7593400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:7592200-7593400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:7592200-7593400	Active TSS	HUVEC	blood vessel
28	chr12:7592200-7593600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:7592200-7594000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:7592400-7593000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:7592400-7593000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:7592400-7593000	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:7592400-7593000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr12:7592400-7593000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:7592400-7593000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:7592400-7593000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr12:7592400-7593000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr12:7592400-7593000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr12:7592400-7593000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:7592400-7593000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
41	chr12:7592400-7593000	Bivalent/Poised TSS	Gastric	stomach
42	chr12:7592400-7593000	Active TSS	Ovary	ovary
43	chr12:7592400-7593000	ZNF genes & repeats	Pancreas	Pancrea
44	chr12:7592400-7593000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr12:7592400-7593000	Flanking Active TSS	HMEC	breast
46	chr12:7592400-7593000	Active TSS	HSMMtube	muscle
47	chr12:7592400-7593000	Active TSS	NHDF-Ad	bronchial
48	chr12:7592400-7593200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:7592400-7593200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:7592400-7593200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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