Variant report

Variant	rs547690932
Chromosome Location	chr12:104681712-104681713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr12:104679614-104681829	A549	lung:	n/a	n/a
2	POLR2A	chr12:104679566-104684466	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:104680676-104684470	A549	lung:	n/a	n/a
4	POLR2A	chr12:104679817-104683502	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:104679670-104683975	HUVEC	blood vessel:	n/a	n/a
6	SP1	chr12:104679158-104684055	A549	lung:	n/a	chr12:104682628-104682639 chr12:104683086-104683100
7	POLR2A	chr12:104679672-104683881	HepG2	liver:	n/a	n/a
8	USF1	chr12:104679686-104681824	A549	lung:	n/a	chr12:104680464-104680475
9	CHD1	chr12:104681414-104681777	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:104680220-104681825	U87	brain:	n/a	n/a
11	POLR2A	chr12:104679581-104681795	IMR90	lung:	n/a	n/a
12	POLR2A	chr12:104679831-104683884	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:104680061-104681859	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:104681503-104681767	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:104680251-104683962	PANC-1	pancreas:	n/a	n/a
16	E2F6	chr12:104679566-104681843	A549	lung:	n/a	chr12:104680728-104680743 chr12:104680958-104680967
17	POLR2A	chr12:104680366-104683152	GM12892	blood:	n/a	n/a
18	TAF1	chr12:104680194-104683939	A549	lung:	n/a	n/a
19	MAX	chr12:104679566-104681851	A549	lung:	n/a	n/a
20	EP300	chr12:104679408-104681826	A549	lung:	n/a	chr12:104679847-104679857
21	POLR2A	chr12:104680118-104683466	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr12:104679956-104681728	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:104679937-104681816	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr12:104680351-104681719	GM12878	blood:	n/a	n/a
25	EP300	chr12:104679346-104683911	A549	lung:	n/a	chr12:104679847-104679857
26	REST	chr12:104679408-104684472	A549	lung:	n/a	chr12:104680747-104680760
27	POLR2A	chr12:104680357-104681745	K562	blood:	n/a	n/a
28	FOSL2	chr12:104679368-104681858	A549	lung:	n/a	chr12:104680226-104680238 chr12:104680274-104680283
29	POLR2A	chr12:104680408-104681860	ProgFib	skin:	n/a	n/a
30	SIN3AK20	chr12:104680529-104681742	K562	blood:	n/a	n/a
31	SIN3AK20	chr12:104679503-104681803	A549	lung:	n/a	n/a
32	POLR2A	chr12:104680539-104681750	GM12892	blood:	n/a	n/a
33	CHD1	chr12:104679486-104684470	IMR90	lung:	n/a	n/a
34	POLR2A	chr12:104680529-104681721	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:104680182-104681831	U87	brain:	n/a	n/a
36	POLR2A	chr12:104679377-104681753	MCF10A-Er-Src	breast:	n/a	n/a
37	TBP	chr12:104679491-104681717	Hela-S3	cervix:	n/a	n/a
38	TBP	chr12:104679881-104681717	HepG2	liver:	n/a	n/a
39	ETS1	chr12:104679766-104681850	A549	lung:	n/a	n/a
40	POLR2A	chr12:104679715-104683860	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:104679672-104683561	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr12:104679782-104681874	HUVEC	blood vessel:	n/a	n/a
43	BCL3	chr12:104679443-104681804	A549	lung:	n/a	chr12:104680954-104680967 chr12:104680954-104680967
44	POLR2A	chr12:104679602-104683891	Hela-S3	cervix:	n/a	n/a
45	HEY1	chr12:104680465-104681726	K562	blood:	n/a	n/a
46	REST	chr12:104679588-104681748	A549	lung:	n/a	chr12:104680747-104680760
47	POLR2A	chr12:104680439-104681724	GM12892	blood:	n/a	n/a
48	GATA3	chr12:104679262-104685085	A549	lung:	n/a	chr12:104683188-104683204 chr12:104683192-104683201 chr12:104683191-104683199 chr12:104683216-104683229 chr12:104683841-104683851 chr12:104683193-104683210
49	POLR2A	chr12:104680630-104681742	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr12:104679605-104681848	A549	lung:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:
2	chr12:104680883..104682793-chr4:2937932..2939461,2	MCF-7	breast:
3	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
4	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:
5	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
6	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:
7	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
8	chr12:104681104..104682731-chr12:105500276..105502937,2	K562	blood:
9	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
10	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
11	chr12:104643850..104647465-chr12:104679926..104684172,5	K562	blood:
12	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
13	chr12:104673431..104677021-chr12:104679201..104682284,5	MCF-7	breast:
14	chr12:104643349..104645898-chr12:104680595..104683102,2	K562	blood:
15	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:
16	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
17	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
18	chr12:104681662..104683943-chr12:104703194..104704714,2	MCF-7	breast:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000249673	Chromatin interaction
ENSG00000257732	Chromatin interaction
ENSG00000255150	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136051	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	chr12:104680400-104682000	Active TSS	Thymus	Thymus
9	chr12:104680400-104682200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:104680400-104683000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:104680400-104683000	Active TSS	Brain Angular Gyrus	brain
12	chr12:104680400-104683000	Active TSS	Fetal Brain Male	brain
13	chr12:104680400-104683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:104680400-104683200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:104680400-104683200	Active TSS	Colon Smooth Muscle	Colon
16	chr12:104680400-104683200	Active TSS	Fetal Brain Female	brain
17	chr12:104680400-104683400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:104680400-104683400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:104680400-104683600	Active TSS	Brain Anterior Caudate	brain
20	chr12:104680400-104683600	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:104680400-104683600	Active TSS	Brain Hippocampus Middle	brain
22	chr12:104680400-104683600	Active TSS	Fetal Kidney	kidney
23	chr12:104680400-104683600	Active TSS	Left Ventricle	heart
24	chr12:104680400-104683600	Active TSS	Ovary	ovary
25	chr12:104680400-104683600	Active TSS	Psoas Muscle	Psoas
26	chr12:104680400-104683600	Active TSS	Right Ventricle	heart
27	chr12:104680400-104683800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:104680400-104684000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:104680400-104684000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:104680400-104684000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr12:104680400-104684200	Active TSS	Right Atrium	heart
32	chr12:104680600-104682000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:104680600-104682000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:104680600-104682000	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr12:104680600-104682000	Active TSS	Liver	Liver
36	chr12:104680600-104682000	Active TSS	Duodenum Mucosa	Duodenum
37	chr12:104680600-104682000	Active TSS	Fetal Heart	heart
38	chr12:104680600-104682000	Active TSS	Fetal Intestine Small	intestine
39	chr12:104680600-104682000	Active TSS	Fetal Lung	lung
40	chr12:104680600-104682000	Active TSS	Stomach Smooth Muscle	stomach
41	chr12:104680600-104682000	Active TSS	Dnd41	blood
42	chr12:104680600-104682200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:104680600-104682200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:104680600-104682200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:104680600-104682200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:104680600-104682400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:104680600-104682400	Active TSS	NHEK	skin
48	chr12:104680600-104682600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:104680600-104682600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:104680600-104682600	Active TSS	NHLF	lung

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