Variant report

Variant	rs786446
Chromosome Location	chr12:124069213-124069214
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:381)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:124069137-124069728	GM12878	blood:	n/a	chr12:124069466-124069475
2	SP1	chr12:124068502-124069538	HCT-116	colon:	n/a	chr12:124069073-124069082 chr12:124069071-124069083 chr12:124069071-124069083 chr12:124069068-124069082
3	POLR2A	chr12:124068654-124069793	HL-60	blood:	n/a	n/a
4	POLR2A	chr12:124068352-124069575	PFSK-1	brain:	n/a	n/a
5	REST	chr12:124069168-124069769	HL-60	blood:	n/a	chr12:124069466-124069475
6	POU2F2	chr12:124068579-124069375	GM12878	blood:	n/a	n/a
7	FOXM1	chr12:124068580-124069638	GM12878	blood:	n/a	n/a
8	ZNF143	chr12:124068765-124069456	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOSL2	chr12:124068535-124069250	A549	lung:	n/a	n/a
10	POLR2A	chr12:124068655-124069565	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:124068543-124069412	PANC-1	pancreas:	n/a	n/a
12	CTCF	chr12:124069110-124069423	T-47D	breast:	n/a	n/a
13	POLR2A	chr12:124068566-124069688	GM18951	blood:	n/a	n/a
14	RELA	chr12:124068644-124069344	GM15510	blood:	n/a	n/a
15	TBL1XR1	chr12:124068701-124069326	GM12878	blood:	n/a	n/a
16	GABPA	chr12:124068713-124069452	SK-N-SH	brain:	n/a	n/a
17	FOS	chr12:124068814-124069454	HUVEC	blood vessel:	n/a	n/a
18	GABPA	chr12:124068710-124069661	K562	blood:	n/a	n/a
19	POLR2A	chr12:124068564-124069565	GM19193	blood:	n/a	n/a
20	POLR2A	chr12:124068438-124069783	K562	blood:	n/a	n/a
21	HEY1	chr12:124068504-124069338	HepG2	liver:	n/a	n/a
22	REST	chr12:124068473-124069619	A549	lung:	n/a	chr12:124069466-124069475
23	POLR2A	chr12:124068520-124070709	SK-N-MC	brain:	n/a	n/a
24	MYC	chr12:124069181-124069283	MCF-7	breast:	n/a	n/a
25	MAX	chr12:124068737-124069838	K562	blood:	n/a	n/a
26	CEBPB	chr12:124068699-124069225	HepG2	liver:	n/a	n/a
27	REST	chr12:124068713-124069263	SK-N-SH	brain:	n/a	n/a
28	MAZ	chr12:124068800-124069216	HepG2	liver:	n/a	n/a
29	TAF1	chr12:124068666-124069375	GM12878	blood:	n/a	n/a
30	GABPA	chr12:124068617-124069376	A549	lung:	n/a	n/a
31	EP300	chr12:124068628-124069602	SK-N-SH	brain:	n/a	n/a
32	HCFC1	chr12:124068687-124069410	K562	blood:	n/a	n/a
33	SRF	chr12:124068737-124069245	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr12:124068634-124069391	U87	brain:	n/a	n/a
35	REST	chr12:124069158-124069831	H1-hESC	embryonic stem cell:	n/a	chr12:124069466-124069475
36	BCLAF1	chr12:124068545-124069449	GM12878	blood:	n/a	chr12:124069073-124069082
37	ETS1	chr12:124068746-124069288	GM12878	blood:	n/a	n/a
38	MAX	chr12:124068671-124069771	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr12:124068617-124069214	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr12:124068402-124069424	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr12:124068447-124069370	K562	blood:	n/a	n/a
42	YY1	chr12:124068705-124069404	K562	blood:	n/a	chr12:124068983-124068994
43	PBX3	chr12:124068688-124069314	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr12:124068536-124069387	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:124068412-124069456	GM12891	blood:	n/a	n/a
46	FOXM1	chr12:124068623-124069359	GM12878	blood:	n/a	n/a
47	USF1	chr12:124068623-124069239	A549	lung:	n/a	n/a
48	POLR2A	chr12:124068687-124069372	HEK293	kidney:	n/a	n/a
49	CHD2	chr12:124068466-124069256	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr12:124068722-124069498	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124069168-124069218	SKMC	muscle:	n/a
2	chr12:124069168-124069218	K562	blood:	n/a
3	chr12:124069168-124069218	HCM	heart:	n/a
4	chr12:124069168-124069218	PrEC	prostate:	n/a
5	chr12:124069168-124069218	HNPCEpiC	eye:	n/a
6	chr12:124069168-124069218	SK-N-SH	brain:	n/a
7	chr12:124069168-124069218	HCF	heart:	n/a
8	chr12:124069168-124069218	PANC-1	pancreas:	n/a
9	chr12:124069168-124069218	AG09319	gingival:	n/a
10	chr12:124069168-124069218	HIPEpiC	eye:	n/a
11	chr12:124069168-124069218	SK-N-MC	brain:	n/a
12	chr12:124069168-124069218	BJ	skin:	n/a
13	chr12:124069168-124069218	HepG2	liver:	n/a
14	chr12:124069168-124069218	ProgFib	skin:	n/a
15	chr12:124069168-124069218	NB4	blood:	n/a
16	chr12:124069168-124069218	GM12878	blood:	n/a
17	chr12:124069168-124069218	MCF-7	breast:	n/a
18	chr12:124069168-124069218	ECC-1	luminal epithelium:	n/a
19	chr12:124069168-124069218	HAEpiC	amniotic membrane:	n/a
20	chr12:124069168-124069218	HEEpiC	esophagus:	n/a
21	chr12:124069168-124069218	HRCEpiC	kidney:	n/a
22	chr12:124069168-124069218	Caco-2	colon:	n/a
23	chr12:124069168-124069218	GM12892	blood:	n/a
24	chr12:124069168-124069218	NHDF-neo	bronchial:	n/a
25	chr12:124069168-124069218	HRE	kidney:	n/a
26	chr12:124069168-124069218	RPTEC	kidney:	n/a
27	chr12:124069168-124069218	BE2_C	brain:	n/a
28	chr12:124069168-124069218	MCF10A-Er-Src	breast:	n/a
29	chr12:124069168-124069218	HRPEpiC	eye:	n/a
30	chr12:124069168-124069218	NHBE	bronchial:	n/a
31	chr12:124069168-124069218	ovcar-3	ovarian:	n/a
32	chr12:124069168-124069218	U87	brain:	n/a
33	chr12:124069168-124069218	AoSMC	blood vessel:	n/a
34	chr12:124069168-124069218	PFSK-1	brain:	n/a
35	chr12:124069168-124069218	AG04449	skin:	fetal
36	chr12:124069168-124069218	CMK	blood:	n/a
37	chr12:124069168-124069218	SK-N-SH_RA	brain:	n/a
38	chr12:124069168-124069218	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:124069168-124069218	HUVEC	blood vessel:	n/a
40	chr12:124069168-124069218	LNCaP	prostate:	n/a
41	chr12:124069168-124069218	Hela-S3	cervix:	n/a
42	chr12:124069168-124069218	NT2-D1	testis:	n/a
43	chr12:124069168-124069218	IMR90	lung:	fetal
44	chr12:124069168-124069218	HL-60	blood:	n/a
45	chr12:124069168-124069218	AG10803	skin:	n/a
46	chr12:124069168-124069218	HCT-116	colon:	n/a
47	chr12:124069168-124069218	AG04450	lung:	fetal
48	chr12:124069168-124069218	Jurkat	blood:	n/a
49	chr12:124069168-124069218	GM19239	blood:	n/a
50	chr12:124069168-124069218	NH-A	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123846000..123850093-chr12:124067189..124070124,4	K562	blood:
2	chr12:124068784..124069610-chr17:35766980..35767756,2	NB4	blood:
3	chr12:123920837..123922890-chr12:124067881..124069805,2	K562	blood:
4	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
5	chr12:123716734..123718943-chr12:124067701..124069242,2	MCF-7	breast:
6	chr12:123941098..123944051-chr12:124068238..124070527,2	K562	blood:
7	chr12:123867374..123868909-chr12:124067489..124069464,2	K562	blood:
8	chr12:124067567..124070616-chr12:124116717..124118360,3	K562	blood:
9	chr12:124067302..124072457-chr12:124084684..124088760,8	K562	blood:
10	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
11	chr12:124067363..124072745-chr12:124084857..124088217,7	K562	blood:
12	chr12:124068907..124069507-chr19:10763953..10764535,2	NB4	blood:
13	chr12:123941578..123944282-chr12:124067320..124071098,9	MCF-7	breast:
14	chr12:124068482..124069384-chr17:48045883..48046404,2	Hela-S3	cervix:
15	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
16	chr12:123846861..123850261-chr12:124066655..124071408,9	MCF-7	breast:
17	chr1:149223310..149224289-chr12:124068656..124069362,2	HCT-116	colon:
18	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
19	chr12:123847713..123850022-chr12:124067528..124071055,3	MCF-7	breast:
20	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
21	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
22	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:

No data

Variant related genes	Relation type
TMED2	TF binding region
TMED2	CpG island
ENSG00000111358	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000267100	Chromatin interaction
ENSG00000108813	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000108264	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000139697	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1707721	1.00[AMR][1000 genomes]
rs1707722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1707723	0.86[AFR][1000 genomes]
rs57056482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890199	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60822223	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61611881	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414291	1.00[AMR][1000 genomes]
rs73414297	1.00[AMR][1000 genomes]
rs73416206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416253	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786453	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr12:124066400-124070000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:124066800-124069800	Active TSS	HSMM	muscle
3	chr12:124066800-124070000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:124066800-124070000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:124066800-124070000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:124067000-124069800	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:124067000-124070000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:124067000-124070000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:124067000-124070400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:124067200-124069800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:124067200-124070000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:124067200-124070400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:124067200-124070600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:124067400-124069800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:124067400-124069800	Active TSS	NHEK	skin
16	chr12:124067400-124070000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:124067400-124070000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:124067400-124070000	Active TSS	HMEC	breast
19	chr12:124067400-124070000	Active TSS	NHDF-Ad	bronchial
20	chr12:124067400-124070200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:124067400-124070200	Active TSS	A549	lung
22	chr12:124067400-124070800	Active TSS	NHLF	lung
23	chr12:124067600-124069600	Active TSS	HepG2	liver
24	chr12:124067600-124069800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:124067600-124069800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:124067600-124069800	Active TSS	Small Intestine	intestine
27	chr12:124067600-124070000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:124067600-124070000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:124067600-124070000	Active TSS	Hela-S3	cervix
30	chr12:124067600-124070000	Active TSS	Osteobl	bone
31	chr12:124067600-124070200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:124067600-124070200	Active TSS	Aorta	Aorta
33	chr12:124067600-124070200	Active TSS	Fetal Intestine Large	intestine
34	chr12:124067600-124070400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:124067600-124070400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:124067600-124071400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:124067800-124069800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:124067800-124069800	Active TSS	GM12878-XiMat	blood
39	chr12:124067800-124070000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:124067800-124070000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:124067800-124070000	Active TSS	HSMMtube	muscle
42	chr12:124067800-124070000	Active TSS	K562	blood
43	chr12:124068000-124069400	Active TSS	Primary hematopoietic stem cells	blood
44	chr12:124068000-124069600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:124068000-124069600	Active TSS	Brain Cingulate Gyrus	brain
46	chr12:124068000-124069600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:124068000-124069800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:124068000-124069800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:124068000-124069800	Active TSS	Brain Angular Gyrus	brain
50	chr12:124068000-124069800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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