Variant report

Variant	rs552223193
Chromosome Location	chr12:104359921-104359922
allele	A/G
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	HCFC1	chr12:104358419-104361266	Hela-S3	cervix:	n/a	n/a
2	IRF1	chr12:104359163-104360120	K562	blood:	n/a	n/a
3	ZNF143	chr12:104359189-104360099	GM12878	blood:	n/a	chr12:104359851-104359861
4	REST	chr12:104359315-104360036	K562	blood:	n/a	chr12:104359845-104359858 chr12:104359393-104359402
5	MAX	chr12:104359121-104360037	K562	blood:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
6	HEY1	chr12:104359135-104360338	K562	blood:	n/a	chr12:104359845-104359860
7	MAZ	chr12:104359234-104360039	GM12878	blood:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
8	NFIC	chr12:104359227-104359936	ECC-1	luminal epithelium:	n/a	n/a
9	CHD2	chr12:104359296-104360093	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:104359289-104360092	HepG2	liver:	n/a	n/a
11	FOSL2	chr12:104359125-104360159	A549	lung:	n/a	n/a
12	REST	chr12:104359211-104360156	HepG2	liver:	n/a	chr12:104359845-104359858 chr12:104359393-104359402
13	TAF1	chr12:104359105-104360262	ECC-1	luminal epithelium:	n/a	n/a
14	ARID3A	chr12:104359319-104360150	HepG2	liver:	n/a	n/a
15	YY1	chr12:104359280-104360136	HCT-116	colon:	n/a	chr12:104359847-104359861
16	SIN3AK20	chr12:104359304-104360128	K562	blood:	n/a	n/a
17	MAX	chr12:104359189-104360243	H1-hESC	embryonic stem cell:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
18	JUND	chr12:104359063-104360127	K562	blood:	n/a	n/a
19	GTF2F1	chr12:104359234-104360111	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:104359159-104360303	HCT-116	colon:	n/a	n/a
21	BRCA1	chr12:104359588-104360154	GM12878	blood:	n/a	n/a
22	CTCF	chr12:104359820-104359970	HRPEpiC	eye:	n/a	n/a
23	MAX	chr12:104359103-104360219	K562	blood:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
24	POLR2A	chr12:104358808-104360710	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:104358839-104360225	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:104358245-104360335	K562	blood:	n/a	n/a
27	POLR2A	chr12:104358891-104360241	K562	blood:	n/a	n/a
28	MAX	chr12:104359279-104360173	Hela-S3	cervix:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
29	POLR2A	chr12:104359154-104360228	HepG2	liver:	n/a	n/a
30	TCF12	chr12:104359325-104360029	GM12878	blood:	n/a	n/a
31	TAF7	chr12:104359279-104360209	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:104359051-104360395	U87	brain:	n/a	n/a
33	YY1	chr12:104359075-104360288	A549	lung:	n/a	chr12:104359847-104359861
34	MAX	chr12:104359061-104360256	ECC-1	luminal epithelium:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
35	POLR2A	chr12:104359176-104360201	MCF-7	breast:	n/a	n/a
36	TBP	chr12:104359260-104360196	HepG2	liver:	n/a	n/a
37	ZEB1	chr12:104359419-104360213	GM12878	blood:	n/a	chr12:104360046-104360057
38	POLR2A	chr12:104359214-104360136	GM10847	blood:	n/a	n/a
39	ZBTB7A	chr12:104359111-104360094	K562	blood:	n/a	n/a
40	POLR2A	chr12:104358877-104360387	SK-N-MC	brain:	n/a	n/a
41	MAX	chr12:104359146-104360206	MCF-7	breast:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
42	E2F6	chr12:104359145-104360122	H1-hESC	embryonic stem cell:	n/a	chr12:104359845-104359855 chr12:104359959-104359968
43	RELA	chr12:104359245-104360339	GM19099	blood:	n/a	n/a
44	POLR2A	chr12:104359307-104360072	A549	lung:	n/a	n/a
45	SP1	chr12:104359220-104359965	H1-hESC	embryonic stem cell:	n/a	chr12:104359654-104359668 chr12:104359605-104359616
46	MYC	chr12:104359302-104360154	K562	blood:	n/a	chr12:104359744-104359751 chr12:104359568-104359577 chr12:104359407-104359416 chr12:104359568-104359577
47	CTCF	chr12:104359780-104359930	NB4	blood:	n/a	n/a
48	MXI1	chr12:104359283-104360175	HepG2	liver:	n/a	n/a
49	TCF12	chr12:104359747-104359984	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFYB	chr12:104359168-104360128	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104359505..104360344-chr5:43018121..43018755,2	Hela-S3	cervix:
2	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
3	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
4	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
5	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:
6	chr12:104359592..104360252-chr19:7733516..7734441,2	NB4	blood:
7	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
8	chr12:104359162..104360034-chr8:81398395..81398898,2	NB4	blood:
9	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
10	chr12:104358555..104361363-chr12:104388778..104391446,2	MCF-7	breast:
11	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
12	chr12:104322943..104325215-chr12:104358408..104360868,4	MCF-7	breast:
13	chr1:59249378..59250086-chr12:104359514..104360028,2	Hela-S3	cervix:
14	chr12:104350492..104351269-chr12:104359211..104359991,3	MCF-7	breast:
15	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:
16	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
17	chr12:104350739..104351241-chr12:104359347..104360064,2	MCF-7	breast:
18	chr12:104359049..104360010-chr6:105850675..105851420,2	Hela-S3	cervix:
19	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
20	chr12:102510855..102512497-chr12:104358534..104361115,2	K562	blood:
21	chr11:93474063..93474970-chr12:104359568..104360080,2	NB4	blood:
22	chr12:104350497..104351651-chr12:104359273..104360330,4	MCF-7	breast:
23	chr1:1510326..1510834-chr12:104359688..104360659,2	NB4	blood:
24	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
25	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000085377	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000205189	Chromatin interaction
ENSG00000104918	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000215014	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000075188	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000177606	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1799879	chr12:104351057-104360713	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
4	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104357800-104361200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104358000-104360600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:104358000-104360800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:104358200-104360600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:104358200-104360600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:104358200-104361200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:104358400-104360600	Active TSS	Stomach Mucosa	stomach
8	chr12:104358400-104360600	Active TSS	HSMM	muscle
9	chr12:104358400-104360800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:104358400-104360800	Active TSS	Fetal Muscle Trunk	muscle
11	chr12:104358400-104360800	Active TSS	Ovary	ovary
12	chr12:104358400-104361000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:104358400-104361000	Active TSS	Fetal Intestine Large	intestine
14	chr12:104358400-104361200	Active TSS	Psoas Muscle	Psoas
15	chr12:104358600-104360400	Active TSS	Duodenum Mucosa	Duodenum
16	chr12:104358600-104360400	Active TSS	Fetal Brain Male	brain
17	chr12:104358600-104360400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr12:104358600-104360600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:104358600-104360600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104358600-104360600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104358600-104360600	Active TSS	Brain Germinal Matrix	brain
22	chr12:104358600-104360600	Active TSS	Fetal Brain Female	brain
23	chr12:104358600-104360600	Active TSS	Fetal Kidney	kidney
24	chr12:104358600-104360600	Active TSS	Fetal Stomach	stomach
25	chr12:104358600-104360600	Active TSS	HUVEC	blood vessel
26	chr12:104358600-104360600	Active TSS	K562	blood
27	chr12:104358600-104360600	Active TSS	Osteobl	bone
28	chr12:104358600-104360800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:104358600-104360800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:104358600-104360800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:104358600-104360800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:104358600-104360800	Active TSS	Aorta	Aorta
33	chr12:104358600-104360800	Active TSS	A549	lung
34	chr12:104358600-104360800	Active TSS	NHDF-Ad	bronchial
35	chr12:104358600-104361000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:104358600-104361000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:104358600-104361000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:104358600-104361000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:104358600-104361000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:104358600-104361200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:104358600-104361200	Active TSS	Fetal Intestine Small	intestine
42	chr12:104358600-104361200	Active TSS	Right Atrium	heart
43	chr12:104358600-104361400	Active TSS	HSMMtube	muscle
44	chr12:104358600-104361600	Active TSS	GM12878-XiMat	blood
45	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
46	chr12:104358800-104360200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:104358800-104360200	Active TSS	Fetal Thymus	thymus
48	chr12:104358800-104360400	Bivalent/Poised TSS	HepG2	liver
49	chr12:104358800-104360600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104358800-104360600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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