Variant report

Variant	rs61747067
Chromosome Location	chr12:57637667-57637668
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:57637534-57637759	SK-N-SH_RA	brain:	n/a	n/a
2	TEAD4	chr12:57637373-57637847	K562	blood:	n/a	n/a
3	CTCF	chr12:57637560-57637710	GM12873	blood:	n/a	n/a
4	CTCF	chr12:57637560-57637710	GM12866	blood:	n/a	n/a
5	CTCF	chr12:57637465-57637819	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr12:57637540-57637690	SAEC	small airway:	n/a	n/a
7	ATF2	chr12:57637390-57637863	GM12878	blood:	n/a	chr12:57637650-57637664
8	CTCF	chr12:57637560-57637710	GM12865	blood:	n/a	n/a
9	CTCF	chr12:57637540-57637690	K562	blood:	n/a	n/a
10	CTCF	chr12:57637560-57637710	GM12872	blood:	n/a	n/a
11	UBTF	chr12:57637453-57637785	K562	blood:	n/a	n/a
12	TCF12	chr12:57636427-57637809	A549	lung:	n/a	chr12:57636563-57636573 chr12:57637747-57637757
13	CTCF	chr12:57637523-57637751	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr12:57637560-57637710	HCT-116	colon:	n/a	n/a
15	POLR2A	chr12:57637288-57637716	HCT-116	colon:	n/a	n/a
16	MAX	chr12:57637368-57638127	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chr12:57637415-57637949	K562	blood:	n/a	n/a
18	CTCF	chr12:57637520-57637670	GM12864	blood:	n/a	n/a
19	CTCF	chr12:57637520-57637670	HFF-Myc	foreskin:	n/a	n/a
20	MYC	chr12:57637556-57637701	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr12:57637520-57637670	GM12873	blood:	n/a	n/a
22	RAD21	chr12:57637429-57637801	HepG2	liver:	n/a	n/a
23	CTCF	chr12:57637429-57637852	GM12878	blood:	n/a	n/a
24	CTCF	chr12:57637539-57637761	MCF-7	breast:	n/a	n/a
25	FOXM1	chr12:57637451-57637815	GM12878	blood:	n/a	n/a
26	CTCF	chr12:57637523-57637774	GM20000	blood:	n/a	n/a
27	SIN3A	chr12:57636523-57637762	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:57637540-57637690	WERI-Rb-1	eye:	n/a	n/a
29	ZBTB7A	chr12:57637227-57637763	K562	blood:	n/a	n/a
30	CTCF	chr12:57637560-57637710	HBMEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:57637310-57637852	U87	brain:	n/a	n/a
32	CTCF	chr12:57637580-57637730	NB4	blood:	n/a	n/a
33	CTCF	chr12:57637540-57637690	A549	lung:	n/a	n/a
34	ZC3H11A	chr12:57637479-57637701	K562	blood:	n/a	n/a
35	CTCF	chr12:57637580-57637730	GM12869	blood:	n/a	n/a
36	RAD21	chr12:57637492-57637800	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:57637469-57637719	GM12878	blood:	n/a	n/a
38	RAD21	chr12:57637288-57637899	A549	lung:	n/a	n/a
39	MYC	chr12:57637530-57637953	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:57637520-57637768	Pancreas_OC	pancreas:	n/a	n/a
41	MAX	chr12:57637365-57637872	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr12:57637560-57637710	HCFaa	heart:	n/a	n/a
43	CTCF	chr12:57637540-57637690	Caco-2	colon:	n/a	n/a
44	YY1	chr12:57637255-57637852	H1-hESC	embryonic stem cell:	n/a	n/a
45	BHLHE40	chr12:57637495-57637728	K562	blood:	n/a	n/a
46	ZNF263	chr12:57637436-57637829	HEK293-T-REx	kidney:	n/a	n/a
47	ATF2	chr12:57637375-57637844	H1-hESC	embryonic stem cell:	n/a	chr12:57637650-57637664
48	GTF2F1	chr12:57637472-57637762	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:57637420-57637752	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr12:57637506-57637704	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:57636021..57639018-chr12:57639327..57640991,2	MCF-7	breast:
2	chr12:57636648..57638491-chr12:57880305..57881901,2	K562	blood:
3	chr12:57608166..57609235-chr12:57637200..57637869,4	MCF-7	breast:
4	chr12:57637177..57638084-chr12:57849678..57850549,2	K562	blood:
5	chr12:57606643..57608087-chr12:57636460..57637985,5	MCF-7	breast:
6	chr12:57589437..57590373-chr12:57637167..57637902,2	K562	blood:
7	chr12:57635862..57639345-chr12:57850429..57852757,3	K562	blood:
8	chr12:57606466..57609055-chr12:57636459..57638396,24	K562	blood:
9	chr12:57637406..57639155-chr12:57645577..57649504,4	K562	blood:
10	chr12:57637439..57640284-chr12:57642882..57644600,2	MCF-7	breast:
11	chr12:57636983..57640050-chr12:57648004..57652445,5	K562	blood:
12	chr12:57633619..57639143-chr12:57853203..57857806,7	K562	blood:
13	chr12:57636584..57639625-chr12:57824200..57826164,3	K562	blood:
14	chr12:57636277..57638272-chr12:57641265..57643694,3	K562	blood:
15	chr12:57636584..57638482-chr12:57824121..57826164,3	K562	blood:
16	chr12:57478737..57483929-chr12:57633097..57638164,8	MCF-7	breast:
17	chr12:57632989..57634576-chr12:57636410..57638768,2	MCF-7	breast:
18	chr12:57606205..57609184-chr12:57636393..57638193,29	MCF-7	breast:
19	chr12:57636856..57639090-chr12:57822752..57824764,2	MCF-7	breast:
20	chr12:57637439..57639155-chr12:57645577..57647723,2	K562	blood:
21	chr12:57635469..57640213-chr12:57641305..57644273,5	K562	blood:
22	chr12:57609871..57610727-chr12:57636513..57637727,3	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFA4L2	TF binding region
ENSG00000139269	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000182379	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000185482	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000111087	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11832661	1.00[EUR][1000 genomes]
rs34223830	1.00[AMR][1000 genomes]
rs34714459	1.00[AMR][1000 genomes]
rs4760126	0.92[EUR][1000 genomes]
rs7132968	1.00[EUR][1000 genomes]
rs7397991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57634600-57637800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57634600-57638000	Bivalent Enhancer	Fetal Lung	lung
3	chr12:57635600-57638600	Weak transcription	HSMMtube	muscle
4	chr12:57635800-57642600	Weak transcription	HSMM	muscle
5	chr12:57636200-57637800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:57636200-57638000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr12:57636200-57638000	Enhancers	Fetal Brain Male	brain
8	chr12:57636400-57637800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:57636400-57637800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr12:57636400-57637800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr12:57636400-57637800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:57636400-57637800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:57636400-57637800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr12:57636400-57637800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr12:57636400-57637800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:57636400-57637800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:57636400-57637800	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr12:57636400-57637800	Enhancers	Spleen	Spleen
19	chr12:57636400-57638000	Flanking Active TSS	Dnd41	blood
20	chr12:57636600-57637800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:57636600-57637800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:57636600-57638000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:57636600-57638000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr12:57636800-57637800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:57636800-57637800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr12:57636800-57637800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:57636800-57637800	Active TSS	A549	lung
28	chr12:57637200-57637800	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr12:57637200-57637800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:57637200-57637800	Enhancers	Brain Substantia Nigra	brain
31	chr12:57637200-57638000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr12:57637200-57638000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
33	chr12:57637200-57642600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:57637200-57647400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:57637200-57648400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:57637400-57637800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr12:57637400-57637800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
38	chr12:57637400-57637800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:57637400-57637800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
40	chr12:57637400-57637800	Flanking Active TSS	Fetal Brain Female	brain
41	chr12:57637400-57637800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:57637400-57637800	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:57637400-57638000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr12:57637400-57638000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:57637400-57638000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:57637400-57647200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:57637600-57637800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:57637600-57637800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr12:57637600-57637800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:57637600-57637800	Active TSS	Cortex derived primary cultured neurospheres	brain

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