Variant report

Variant	rs111553015
Chromosome Location	chr12:58213932-58213933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr12:58213816-58214232	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:58213888-58214366	HepG2	liver:	n/a	n/a
3	MYBL2	chr12:58213777-58214347	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:58213712-58214054	HepG2	liver:	n/a	n/a
5	FOSL2	chr12:58213321-58215580	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:58212030-58219642	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:58213767-58214310	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:58213822-58214206	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:58209632-58221838	K562	blood:	n/a	n/a
10	SP1	chr12:58213884-58214332	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:58213921-58213955	K562	blood:	n/a	n/a
12	FOXA2	chr12:58213888-58214239	HepG2	liver:	n/a	n/a
13	FOXA1	chr12:58213826-58214363	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:58213826-58214084	K562	blood:	n/a	n/a
15	POLR2A	chr12:58213791-58215443	PFSK-1	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58212086..58214984-chr12:58238632..58241452,2	K562	blood:
2	chr12:58212873..58215210-chr12:58216073..58217617,2	MCF-7	breast:
3	chr12:58209123..58211135-chr12:58212326..58215029,2	MCF-7	breast:
4	chr12:58206978..58209497-chr12:58211355..58214120,3	K562	blood:

No data

Variant related genes	Relation type
AVIL	TF binding region
ENSG00000135407	Chromatin interaction
ENSG00000269903	Chromatin interaction
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv983335	chr12:58213657-58218396	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
3	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
8	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:58194200-58215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:58198400-58215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:58201200-58215000	Weak transcription	Fetal Kidney	kidney
17	chr12:58202400-58214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:58202400-58215000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:58202400-58215200	Weak transcription	GM12878-XiMat	blood
20	chr12:58202600-58214400	Weak transcription	Dnd41	blood
21	chr12:58203400-58216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:58203800-58214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:58204200-58214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:58204200-58216400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:58204600-58214800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:58204800-58216200	Weak transcription	NHEK	skin
27	chr12:58205000-58216600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:58205000-58216600	Weak transcription	Hela-S3	cervix
29	chr12:58205200-58214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:58207400-58214400	Weak transcription	Primary T cells from cord blood	blood
31	chr12:58207400-58215000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:58208600-58215400	Enhancers	HepG2	liver
34	chr12:58209400-58216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:58209600-58216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:58210800-58217000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:58211000-58214000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:58211000-58214000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:58211200-58216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:58211200-58216200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:58211200-58223800	Strong transcription	Osteobl	bone
43	chr12:58211400-58214000	Weak transcription	Brain Angular Gyrus	brain
44	chr12:58211400-58215000	Weak transcription	Ovary	ovary
45	chr12:58211400-58215000	Weak transcription	Stomach Mucosa	stomach
46	chr12:58211400-58215200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:58211400-58217000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:58211600-58215600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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