Variant report

Variant	rs181563220
Chromosome Location	chr12:104680950-104680951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:458)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr12:104680565-104681282	A549	lung:	n/a	n/a
2	EGR1	chr12:104680384-104681038	K562	blood:	n/a	n/a
3	E2F6	chr12:104680529-104681560	K562	blood:	n/a	chr12:104680728-104680743 chr12:104680958-104680967
4	TCF12	chr12:104680038-104681238	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr12:104680558-104681265	SK-N-SH	brain:	n/a	n/a
6	ATF3	chr12:104679614-104681829	A549	lung:	n/a	n/a
7	POLR2A	chr12:104680722-104681091	HepG2	liver:	n/a	n/a
8	POU2F2	chr12:104680435-104681055	GM12878	blood:	n/a	chr12:104680666-104680676 chr12:104680667-104680675 chr12:104680666-104680677 chr12:104680666-104680677
9	TCF7L2	chr12:104680113-104681643	PANC-1	pancreas:	n/a	n/a
10	ZBTB33	chr12:104679652-104681480	A549	lung:	n/a	n/a
11	CEBPB	chr12:104680565-104681116	HepG2	liver:	n/a	n/a
12	TBL1XR1	chr12:104680086-104681234	K562	blood:	n/a	n/a
13	MAFK	chr12:104679980-104681196	K562	blood:	n/a	n/a
14	POLR2A	chr12:104679566-104684466	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr12:104680586-104681308	H1-neurons	neurons:	n/a	n/a
16	REST	chr12:104680560-104681176	PFSK-1	brain:	n/a	chr12:104680747-104680760
17	MAX	chr12:104680338-104681308	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF2	chr12:104680292-104681242	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:104680576-104681270	GM12878	blood:	n/a	n/a
20	MYC	chr12:104680679-104681173	MCF-7	breast:	n/a	n/a
21	CEBPB	chr12:104680229-104681228	A549	lung:	n/a	n/a
22	REST	chr12:104680698-104681118	PANC-1	pancreas:	n/a	chr12:104680747-104680760
23	HEY1	chr12:104680312-104681330	HepG2	liver:	n/a	n/a
24	MAX	chr12:104680223-104681280	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:104680388-104681238	K562	blood:	n/a	n/a
26	POLR2A	chr12:104680676-104684470	A549	lung:	n/a	n/a
27	POLR2A	chr12:104680326-104681660	K562	blood:	n/a	n/a
28	FOXA2	chr12:104679551-104681046	A549	lung:	n/a	n/a
29	MYC	chr12:104680648-104681119	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr12:104680500-104681704	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr12:104679817-104683502	Hela-S3	cervix:	n/a	n/a
32	FOS	chr12:104679877-104681223	MCF10A-Er-Src	breast:	n/a	chr12:104680226-104680238 chr12:104680274-104680283
33	RFX5	chr12:104680689-104681004	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:104680559-104681686	HL-60	blood:	n/a	n/a
35	SP1	chr12:104680241-104680958	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:104680352-104681704	K562	blood:	n/a	n/a
37	POLR2A	chr12:104679670-104683975	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr12:104680328-104681519	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr12:104680510-104681423	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr12:104679758-104681662	Hela-S3	cervix:	n/a	chr12:104680677-104680692
41	SP1	chr12:104680387-104681198	GM12878	blood:	n/a	n/a
42	SP1	chr12:104679158-104684055	A549	lung:	n/a	chr12:104682628-104682639 chr12:104683086-104683100
43	ZNF143	chr12:104680391-104681117	GM12878	blood:	n/a	n/a
44	MXI1	chr12:104680278-104681605	GM12878	blood:	n/a	chr12:104680677-104680692
45	NR2F2	chr12:104680010-104681242	K562	blood:	n/a	n/a
46	POLR2A	chr12:104679672-104683881	HepG2	liver:	n/a	n/a
47	PBX3	chr12:104679661-104681338	A549	lung:	n/a	chr12:104681269-104681278
48	RFX5	chr12:104680287-104681224	GM12878	blood:	n/a	chr12:104680677-104680686 chr12:104680675-104680692
49	STAT5A	chr12:104680564-104681438	GM12878	blood:	n/a	chr12:104681325-104681333
50	EP300	chr12:104680265-104681217	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104680923-104680973	SKMC	muscle:	n/a
2	chr12:104680923-104680973	T-47D	breast:	n/a
3	chr12:104680923-104680973	ovcar-3	ovarian:	n/a
4	chr12:104680923-104680973	HepG2	liver:	n/a
5	chr12:104680923-104680973	Hepatocyte	liver:	n/a
6	chr12:104680923-104680973	SK-N-SH	brain:	n/a
7	chr12:104680923-104680973	ProgFib	skin:	n/a
8	chr12:104680923-104680973	HNPCEpiC	eye:	n/a
9	chr12:104680923-104680973	HIPEpiC	eye:	n/a
10	chr12:104680923-104680973	HL-60	blood:	n/a
11	chr12:104680923-104680973	A549	lung:	n/a
12	chr12:104680923-104680973	MCF10A-Er-Src	breast:	n/a
13	chr12:104680923-104680973	SK-N-SH_RA	brain:	n/a
14	chr12:104680923-104680973	NHDF-neo	bronchial:	n/a
15	chr12:104680923-104680973	AG10803	skin:	n/a
16	chr12:104680923-104680973	IMR90	lung:	fetal
17	chr12:104680923-104680973	AoSMC	blood vessel:	n/a
18	chr12:104680923-104680973	HMEC	breast:	n/a
19	chr12:104680923-104680973	PANC-1	pancreas:	n/a
20	chr12:104680923-104680973	SAEC	small airway:	n/a
21	chr12:104680923-104680973	HAEpiC	amniotic membrane:	n/a
22	chr12:104680923-104680973	HUVEC	blood vessel:	n/a
23	chr12:104680923-104680973	GM19239	blood:	n/a
24	chr12:104680923-104680973	HCT-116	colon:	n/a
25	chr12:104680923-104680973	AG09319	gingival:	n/a
26	chr12:104680923-104680973	GM06990	blood:	n/a
27	chr12:104680923-104680973	GM12891	blood:	n/a
28	chr12:104680923-104680973	BE2_C	brain:	n/a
29	chr12:104680923-104680973	HRE	kidney:	n/a
30	chr12:104680923-104680973	HEEpiC	esophagus:	n/a
31	chr12:104680923-104680973	H1-hESC	embryonic stem cell:	embryo
32	chr12:104680923-104680973	Jurkat	blood:	n/a
33	chr12:104680923-104680973	Hela-S3	cervix:	n/a
34	chr12:104680923-104680973	NT2-D1	testis:	n/a
35	chr12:104680923-104680973	HRPEpiC	eye:	n/a
36	chr12:104680923-104680973	NH-A	brain:	n/a
37	chr12:104680923-104680973	HEK293	kidney:	embryo
38	chr12:104680923-104680973	ECC-1	luminal epithelium:	n/a
39	chr12:104680923-104680973	SK-N-MC	brain:	n/a
40	chr12:104680923-104680973	HCM	heart:	n/a
41	chr12:104680923-104680973	U87	brain:	n/a
42	chr12:104680923-104680973	Caco-2	colon:	n/a
43	chr12:104680923-104680973	PrEC	prostate:	n/a
44	chr12:104680923-104680973	AG09309	skin:	n/a
45	chr12:104680923-104680973	LNCaP	prostate:	n/a
46	chr12:104680923-104680973	GM12892	blood:	n/a
47	chr12:104680923-104680973	AG04449	skin:	fetal
48	chr12:104680923-104680973	AG04450	lung:	fetal
49	chr12:104680923-104680973	GM12878	blood:	n/a
50	chr12:104680923-104680973	HRCEpiC	kidney:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:
2	chr12:104680357..104681211-chr5:67511312..67511865,2	NB4	blood:
3	chr12:104680660..104681263-chr17:74722928..74723465,2	NB4	blood:
4	chr12:104680398..104681014-chr9:95055895..95056419,2	NB4	blood:
5	chr12:104680883..104682793-chr4:2937932..2939461,2	MCF-7	breast:
6	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
7	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
8	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:
9	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
10	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:
11	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
12	chr1:21112911..21113748-chr12:104680547..104681492,2	Hela-S3	cervix:
13	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
14	chr12:104680518..104681165-chr19:12903376..12904127,2	Hela-S3	cervix:
15	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
16	chr12:104643850..104647465-chr12:104679926..104684172,5	K562	blood:
17	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
18	chr11:129765144..129765795-chr12:104680658..104681317,2	NB4	blood:
19	chr12:104673431..104677021-chr12:104679201..104682284,5	MCF-7	breast:
20	chr12:104643349..104645898-chr12:104680595..104683102,2	K562	blood:
21	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:
22	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
23	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
24	chr12:104680695..104681479-chr9:32552140..32552648,2	NB4	blood:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
TXNRD1	CpG island
ENSG00000204954	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000181038	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000257732	Chromatin interaction
ENSG00000170322	Chromatin interaction
ENSG00000255150	Chromatin interaction
ENSG00000127483	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000145675	Chromatin interaction
ENSG00000197579	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000235453	Chromatin interaction
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv819204	chr12:104680805-104682278	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	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	chr12:104680000-104683200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:104680000-104683400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:104680000-104683600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:104680000-104683800	Active TSS	Aorta	Aorta
5	chr12:104680200-104682000	Active TSS	A549	lung
6	chr12:104680200-104682600	Active TSS	Brain Germinal Matrix	brain
7	chr12:104680200-104683200	Active TSS	Brain Substantia Nigra	brain
8	chr12:104680400-104681200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:104680400-104681600	Active TSS	Fetal Muscle Trunk	muscle
10	chr12:104680400-104681600	Active TSS	Spleen	Spleen
11	chr12:104680400-104682000	Active TSS	Thymus	Thymus
12	chr12:104680400-104682200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:104680400-104683000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:104680400-104683000	Active TSS	Brain Angular Gyrus	brain
15	chr12:104680400-104683000	Active TSS	Fetal Brain Male	brain
16	chr12:104680400-104683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:104680400-104683200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:104680400-104683200	Active TSS	Colon Smooth Muscle	Colon
19	chr12:104680400-104683200	Active TSS	Fetal Brain Female	brain
20	chr12:104680400-104683400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:104680400-104683400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:104680400-104683600	Active TSS	Brain Anterior Caudate	brain
23	chr12:104680400-104683600	Active TSS	Brain Cingulate Gyrus	brain
24	chr12:104680400-104683600	Active TSS	Brain Hippocampus Middle	brain
25	chr12:104680400-104683600	Active TSS	Fetal Kidney	kidney
26	chr12:104680400-104683600	Active TSS	Left Ventricle	heart
27	chr12:104680400-104683600	Active TSS	Ovary	ovary
28	chr12:104680400-104683600	Active TSS	Psoas Muscle	Psoas
29	chr12:104680400-104683600	Active TSS	Right Ventricle	heart
30	chr12:104680400-104683800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr12:104680400-104684000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:104680400-104684000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:104680400-104684000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr12:104680400-104684200	Active TSS	Right Atrium	heart
35	chr12:104680600-104681000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:104680600-104681000	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:104680600-104681000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:104680600-104681000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:104680600-104681200	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:104680600-104681200	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:104680600-104681200	Active TSS	Primary T cells from cord blood	blood
42	chr12:104680600-104681200	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:104680600-104681200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104680600-104681400	Active TSS	Primary B cells from peripheral blood	blood
45	chr12:104680600-104681400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr12:104680600-104681400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr12:104680600-104681600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:104680600-104681600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:104680600-104681600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:104680600-104682000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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