Variant report

Variant	rs74106267
Chromosome Location	chr12:83080737-83080738
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	STAT3	chr12:83080156-83080793	MCF10A-Er-Src	breast:	n/a	chr12:83080255-83080267
2	CTCF	chr12:83080214-83081090	GM12878	blood:	n/a	n/a
3	MAX	chr12:83079327-83081865	A549	lung:	n/a	chr12:83081461-83081471
4	POLR2A	chr12:83079620-83081222	MCF-7	breast:	n/a	n/a
5	EP300	chr12:83080392-83080816	SK-N-SH_RA	brain:	n/a	chr12:83080664-83080680
6	POLR2A	chr12:83080069-83081879	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:83080720-83080870	GM12864	blood:	n/a	n/a
8	POLR2A	chr12:83080204-83081177	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr12:83079100-83082637	A549	lung:	n/a	chr12:83079640-83079656 chr12:83081477-83081490 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83081474-83081492 chr12:83079642-83079655
10	SMARCB1	chr12:83079527-83081684	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:83079548-83081869	GM18505	blood:	n/a	n/a
12	POLR2A	chr12:83080241-83080739	A549	lung:	n/a	n/a
13	RAD21	chr12:83079371-83081744	SK-N-SH_RA	brain:	n/a	chr12:83081480-83081490 chr12:83079640-83079659 chr12:83079645-83079655 chr12:83079522-83079532 chr12:83079645-83079657
14	POLR2A	chr12:83080194-83081193	A549	lung:	n/a	n/a
15	POLR2A	chr12:83079456-83081778	GM12892	blood:	n/a	n/a
16	TAF1	chr12:83079336-83081289	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:83080264-83081021	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:83080074-83081240	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr12:83079488-83082182	GM12891	blood:	n/a	n/a
20	BCLAF1	chr12:83080074-83080737	GM12878	blood:	n/a	n/a
21	MXI1	chr12:83079361-83081979	IMR90	lung:	n/a	n/a
22	MAX	chr12:83080145-83081715	GM12878	blood:	n/a	chr12:83081461-83081471
23	TAF1	chr12:83080118-83081093	A549	lung:	n/a	n/a
24	POLR2A	chr12:83080302-83081049	Hela-S3	cervix:	n/a	n/a
25	NRF1	chr12:83080429-83080961	GM12878	blood:	n/a	chr12:83080661-83080675
26	POLR2A	chr12:83080277-83081357	PFSK-1	brain:	n/a	n/a
27	SIN3AK20	chr12:83079411-83081281	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:83079532-83081898	H1-neurons	neurons:	n/a	n/a
29	HEY1	chr12:83080428-83080856	HepG2	liver:	n/a	n/a
30	RELA	chr12:83079430-83081108	GM12891	blood:	n/a	chr12:83080482-83080491 chr12:83080482-83080491
31	POLR2A	chr12:83079413-83082202	GM18951	blood:	n/a	n/a
32	POLR2A	chr12:83079925-83081687	MCF-7	breast:	n/a	n/a
33	MYC	chr12:83080518-83080960	MCF10A-Er-Src	breast:	n/a	n/a
34	CREB1	chr12:83080282-83080791	A549	lung:	n/a	n/a
35	TCF12	chr12:83079357-83080762	ECC-1	luminal epithelium:	n/a	chr12:83080410-83080420
36	RAD21	chr12:83079271-83082452	SK-N-SH	brain:	n/a	chr12:83081480-83081490 chr12:83079640-83079659 chr12:83079645-83079655 chr12:83079522-83079532 chr12:83079645-83079657
37	POLR2A	chr12:83080296-83081076	U87	brain:	n/a	n/a
38	CTCF	chr12:83079187-83082444	SK-N-SH	brain:	n/a	chr12:83079640-83079656 chr12:83081477-83081490 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83081474-83081492 chr12:83079642-83079655
39	ZNF143	chr12:83079468-83082315	GM12878	blood:	n/a	chr12:83081117-83081127 chr12:83080420-83080435 chr12:83080413-83080431 chr12:83082094-83082103 chr12:83079648-83079658
40	TAF1	chr12:83080563-83080849	PFSK-1	brain:	n/a	n/a
41	TAF1	chr12:83079970-83081161	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr12:83080184-83081226	A549	lung:	n/a	n/a
43	SMARCC1	chr12:83079551-83081029	Hela-S3	cervix:	n/a	n/a
44	MAX	chr12:83080063-83081571	A549	lung:	n/a	chr12:83081461-83081471
45	MAZ	chr12:83079446-83081768	GM12878	blood:	n/a	chr12:83081461-83081471
46	NR2F2	chr12:83080012-83080765	MCF-7	breast:	n/a	n/a
47	RCOR1	chr12:83080127-83081579	Hela-S3	cervix:	n/a	n/a
48	SIN3A	chr12:83079513-83082116	GM12878	blood:	n/a	chr12:83080351-83080360 chr12:83081477-83081488
49	POLR2A	chr12:83080011-83081190	GM12878	blood:	n/a	n/a
50	MXI1	chr12:83080125-83080756	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
2	chr12:83080246..83081011-chr12:112123306..112123880,2	NB4	blood:
3	chr12:83079877..83081535-chr12:120728404..120731286,2	MCF-7	breast:
4	chr12:83078982..83081661-chr3:63848631..63850534,2	MCF-7	breast:

Variant related genes	Relation type
TMTC2	TF binding region
ENSG00000111271	Chromatin interaction
ENSG00000089234	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000179104	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10862497	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11115342	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11115348	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11115353	0.88[EUR][1000 genomes]
rs11115355	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11609532	0.92[EUR][1000 genomes]
rs11610988	0.80[EUR][1000 genomes]
rs11613168	0.80[EUR][1000 genomes]
rs11614435	0.88[EUR][1000 genomes]
rs11615763	0.80[EUR][1000 genomes]
rs11615765	0.80[EUR][1000 genomes]
rs12305736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12307168	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12422405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12426166	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13377925	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17009812	0.84[EUR][1000 genomes]
rs17009851	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009854	0.95[EUR][1000 genomes]
rs17009856	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009882	0.82[EUR][1000 genomes]
rs17009885	0.82[EUR][1000 genomes]
rs17009891	0.80[EUR][1000 genomes]
rs17009893	0.80[EUR][1000 genomes]
rs17009899	0.80[EUR][1000 genomes]
rs1922576	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1922579	0.91[EUR][1000 genomes]
rs4620789	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4882428	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55657485	0.92[EUR][1000 genomes]
rs56298822	0.95[EUR][1000 genomes]
rs56396658	0.92[EUR][1000 genomes]
rs61485473	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539683	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7134747	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7134766	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135486	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72615654	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7294890	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303469	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7313778	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73354481	0.84[EUR][1000 genomes]
rs7961953	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975647	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3348300	chr12:83079532-83086951	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83079400-83081000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:83079400-83081400	Active TSS	Primary T cells from cord blood	blood
3	chr12:83079400-83081800	Active TSS	Hela-S3	cervix
4	chr12:83079400-83082200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:83079400-83082400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:83079400-83084200	Active TSS	Fetal Intestine Large	intestine
7	chr12:83079600-83080800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:83079600-83081400	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:83079600-83081400	Active TSS	Osteobl	bone
10	chr12:83079600-83081600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:83079600-83081600	Active TSS	Fetal Intestine Small	intestine
12	chr12:83079600-83081800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:83079600-83081800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:83079600-83081800	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:83079600-83081800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr12:83079600-83081800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:83079600-83081800	Active TSS	Fetal Brain Female	brain
18	chr12:83079600-83082000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:83079600-83082000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:83079600-83082000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr12:83079600-83082000	Active TSS	A549	lung
22	chr12:83079600-83082200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:83079600-83082200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:83079600-83082200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:83079600-83082200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:83079600-83082200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:83079600-83082200	Active TSS	Esophagus	oesophagus
28	chr12:83079600-83082200	Active TSS	Pancreas	Pancrea
29	chr12:83079600-83082200	Active TSS	Stomach Mucosa	stomach
30	chr12:83079600-83082200	Active TSS	HSMM	muscle
31	chr12:83079600-83082400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:83079600-83082400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:83079600-83082400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:83079600-83082400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:83079600-83082400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:83079600-83082400	Active TSS	Right Ventricle	heart
37	chr12:83079600-83082600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:83079600-83082600	Active TSS	Left Ventricle	heart
39	chr12:83079600-83082800	Active TSS	Colonic Mucosa	Colon
40	chr12:83079600-83082800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:83079600-83082800	Active TSS	Right Atrium	heart
42	chr12:83079600-83082800	Active TSS	NHDF-Ad	bronchial
43	chr12:83079600-83083200	Active TSS	Psoas Muscle	Psoas
44	chr12:83079600-83083600	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:83079600-83083800	Active TSS	Brain Substantia Nigra	brain
46	chr12:83079600-83083800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:83079600-83083800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:83079600-83084000	Active TSS	Brain Angular Gyrus	brain
49	chr12:83079600-83084000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:83079600-83084000	Active TSS	Colon Smooth Muscle	Colon

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