Variant report

Variant	rs370512441
Chromosome Location	chr12:83079771-83079772
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	POU2F2	chr12:83079485-83079803	GM12878	blood:	n/a	chr12:83079642-83079654 chr12:83079599-83079612
2	CTCF	chr12:83079534-83079842	A549	lung:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
3	MAX	chr12:83079327-83081865	A549	lung:	n/a	chr12:83081461-83081471
4	POLR2A	chr12:83079622-83079874	A549	lung:	n/a	n/a
5	SP1	chr12:83079457-83079868	GM12878	blood:	n/a	n/a
6	CTCF	chr12:83079519-83079786	Hela-S3	cervix:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
7	POLR2A	chr12:83079620-83081222	MCF-7	breast:	n/a	n/a
8	YY1	chr12:83079528-83079899	GM12878	blood:	n/a	n/a
9	ATF2	chr12:83079423-83079832	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:83079492-83079885	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr12:83079467-83079865	K562	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
12	GTF2F1	chr12:83079456-83080633	Hela-S3	cervix:	n/a	n/a
13	NFIC	chr12:83079332-83080728	ECC-1	luminal epithelium:	n/a	n/a
14	POU2F2	chr12:83079454-83079833	GM12891	blood:	n/a	chr12:83079642-83079654 chr12:83079599-83079612
15	RCOR1	chr12:83079438-83079872	GM12878	blood:	n/a	n/a
16	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
17	SMARCB1	chr12:83079527-83081684	Hela-S3	cervix:	n/a	n/a
18	EP300	chr12:83079496-83080722	ECC-1	luminal epithelium:	n/a	chr12:83080664-83080680 chr12:83080009-83080023
19	POLR2A	chr12:83079548-83081869	GM18505	blood:	n/a	n/a
20	SMC3	chr12:83079457-83079915	HepG2	liver:	n/a	chr12:83079641-83079655 chr12:83079645-83079655
21	BCLAF1	chr12:83079455-83079908	GM12878	blood:	n/a	n/a
22	CEBPB	chr12:83079437-83080568	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:83079504-83079813	MCF-7	breast:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
24	CTCF	chr12:83079494-83079815	MCF-7	breast:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
25	CTCF	chr12:83079496-83079831	GM19239	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
26	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
27	RELA	chr12:83079459-83080685	GM10847	blood:	n/a	chr12:83080482-83080491 chr12:83080482-83080491
28	POLR2A	chr12:83079456-83081778	GM12892	blood:	n/a	n/a
29	TAF1	chr12:83079336-83081289	MCF-7	breast:	n/a	n/a
30	SMC3	chr12:83079496-83079903	K562	blood:	n/a	chr12:83079641-83079655 chr12:83079645-83079655
31	CHD2	chr12:83079503-83079834	Hela-S3	cervix:	n/a	n/a
32	EP300	chr12:83079453-83080655	T-47D	breast:	n/a	chr12:83080009-83080023
33	CTCF	chr12:83079496-83079828	GM19238	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
34	POLR2A	chr12:83079488-83082182	GM12891	blood:	n/a	n/a
35	EBF1	chr12:83079511-83079895	GM12878	blood:	n/a	n/a
36	MXI1	chr12:83079433-83079933	HepG2	liver:	n/a	n/a
37	CTCF	chr12:83079522-83079790	H1-hESC	embryonic stem cell:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
38	YY1	chr12:83079475-83079836	GM12892	blood:	n/a	n/a
39	MXI1	chr12:83079361-83081979	IMR90	lung:	n/a	n/a
40	MAX	chr12:83079444-83080001	NB4	blood:	n/a	n/a
41	FOXA2	chr12:83079459-83079900	A549	lung:	n/a	n/a
42	RAD21	chr12:83079391-83080526	ECC-1	luminal epithelium:	n/a	chr12:83079640-83079659 chr12:83079645-83079655 chr12:83079522-83079532 chr12:83079645-83079657
43	POLR2A	chr12:83079446-83079881	SK-N-SH	brain:	n/a	n/a
44	RFX5	chr12:83079483-83079860	GM12878	blood:	n/a	n/a
45	CTCF	chr12:83079516-83079772	GM13976	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
46	JUND	chr12:83079461-83079831	H1-hESC	embryonic stem cell:	n/a	n/a
47	FOXA1	chr12:83079394-83079793	HepG2	liver:	n/a	n/a
48	RFX5	chr12:83079552-83079966	HepG2	liver:	n/a	n/a
49	CTCF	chr12:83079467-83079829	K562	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
50	SIN3AK20	chr12:83079411-83081281	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
2	chr12:83079314..83080074-chr12:83165496..83166214,2	MCF-7	breast:
3	chr12:83079259..83080112-chr12:83782817..83783839,5	MCF-7	breast:
4	chr12:83079542..83080051-chr12:83782752..83783696,2	MCF-7	breast:
5	chr12:83078627..83080390-chr12:83781749..83784378,2	MCF-7	breast:
6	chr12:83077655..83080172-chr12:83389847..83391869,2	MCF-7	breast:
7	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
8	chr12:83078910..83080496-chr12:83405630..83407973,2	MCF-7	breast:
9	chr12:83079605..83080356-chr12:83398378..83399038,2	MCF-7	breast:
10	chr12:83079302..83080209-chr12:83828151..83829089,2	MCF-7	breast:
11	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
12	chr12:83078982..83081661-chr3:63848631..63850534,2	MCF-7	breast:
13	chr12:83078866..83080454-chr12:83132820..83134992,2	MCF-7	breast:

Variant related genes	Relation type
TMTC2	TF binding region
ENSG00000163634	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000179104	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83079400-83079800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:83079400-83079800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:83079400-83079800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:83079400-83079800	Enhancers	Fetal Heart	heart
5	chr12:83079400-83080000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:83079400-83080200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:83079400-83080200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:83079400-83081000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:83079400-83081400	Active TSS	Primary T cells from cord blood	blood
10	chr12:83079400-83081800	Active TSS	Hela-S3	cervix
11	chr12:83079400-83082200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:83079400-83082400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:83079400-83084200	Active TSS	Fetal Intestine Large	intestine
14	chr12:83079600-83079800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:83079600-83079800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:83079600-83079800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:83079600-83079800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:83079600-83079800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr12:83079600-83079800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:83079600-83079800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:83079600-83079800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:83079600-83079800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:83079600-83079800	Flanking Active TSS	Thymus	Thymus
24	chr12:83079600-83079800	Active TSS	HepG2	liver
25	chr12:83079600-83079800	Active TSS	HSMMtube	muscle
26	chr12:83079600-83079800	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:83079600-83080000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:83079600-83080000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:83079600-83080000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr12:83079600-83080000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr12:83079600-83080000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:83079600-83080000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:83079600-83080000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:83079600-83080000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:83079600-83080000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:83079600-83080000	Flanking Active TSS	Fetal Lung	lung
37	chr12:83079600-83080000	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr12:83079600-83080000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:83079600-83080000	Flanking Active TSS	HMEC	breast
40	chr12:83079600-83080000	Flanking Active TSS	NH-A	brain
41	chr12:83079600-83080000	Flanking Active TSS	NHEK	skin
42	chr12:83079600-83080000	Flanking Active TSS	NHLF	lung
43	chr12:83079600-83080200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr12:83079600-83080200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr12:83079600-83080200	Flanking Active TSS	Liver	Liver
46	chr12:83079600-83080200	Flanking Active TSS	Fetal Kidney	kidney
47	chr12:83079600-83080200	Flanking Active TSS	Placenta	Placenta
48	chr12:83079600-83080200	Flanking Active TSS	HUVEC	blood vessel
49	chr12:83079600-83080400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr12:83079600-83080400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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