Variant report

Variant	rs11555555
Chromosome Location	chr12:58215708-58215709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58215265-58215820	K562	blood:	n/a	n/a
2	POLR2A	chr12:58215524-58215949	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:58215502-58218348	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:58212030-58219642	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:58215659-58215961	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:58215554-58215746	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:58215638-58215915	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:58215303-58215983	K562	blood:	n/a	n/a
9	POLR2A	chr12:58209632-58221838	K562	blood:	n/a	n/a
10	POLR2A	chr12:58215452-58215952	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:58215617-58215960	GM12878	blood:	n/a	n/a
12	CTCF	chr12:58215640-58215790	GM12873	blood:	n/a	n/a
13	POLR2A	chr12:58214827-58215962	K562	blood:	n/a	n/a
14	POLR2A	chr12:58214647-58215758	K562	blood:	n/a	n/a
15	POLR2A	chr12:58214158-58216521	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:58214813-58215979	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:58214803-58215983	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:58215551..58217986-chr12:58219224..58221045,3	K562	blood:
2	chr12:58215698..58217316-chr12:58239307..58241322,2	K562	blood:
3	chr12:58209482..58212402-chr12:58215450..58219043,3	MCF-7	breast:
4	chr12:58214310..58216353-chr12:58218118..58220758,3	MCF-7	breast:

No data

Variant related genes	Relation type
AVIL	TF binding region
ENSG00000207789	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000135407	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11172336	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11172339	0.83[AMR][1000 genomes]
rs11829917	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297574	1.00[AMR][1000 genomes]
rs12297635	1.00[AMR][1000 genomes]
rs12297639	0.83[AMR][1000 genomes]
rs12321371	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1389302	0.83[AMR][1000 genomes]
rs3211638	0.83[AMR][1000 genomes]
rs3472	0.83[AMR][1000 genomes]
rs3473	0.83[AMR][1000 genomes]
rs36227551	0.83[AMR][1000 genomes]
rs74094230	0.83[AMR][1000 genomes]

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:127 , 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	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
6	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:58203400-58216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:58204200-58216400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:58204800-58216200	Weak transcription	NHEK	skin
14	chr12:58205000-58216600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:58205000-58216600	Weak transcription	Hela-S3	cervix
16	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:58209400-58216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:58209600-58216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:58210800-58217000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:58211200-58216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:58211200-58216200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:58211200-58223800	Strong transcription	Osteobl	bone
24	chr12:58211400-58217000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:58211600-58216600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:58211600-58222800	Strong transcription	Fetal Stomach	stomach
29	chr12:58211600-58224000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:58211800-58216200	Strong transcription	Fetal Muscle Leg	muscle
31	chr12:58211800-58216400	Weak transcription	Psoas Muscle	Psoas
32	chr12:58212000-58216800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:58212000-58217000	Strong transcription	Fetal Thymus	thymus
34	chr12:58212000-58222600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:58212000-58222800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:58212000-58224400	Strong transcription	Fetal Intestine Large	intestine
37	chr12:58212000-58224800	Strong transcription	Thymus	Thymus
38	chr12:58212200-58216200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:58212200-58216600	Weak transcription	HMEC	breast
40	chr12:58212200-58222800	Strong transcription	Fetal Intestine Small	intestine
41	chr12:58212200-58223600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:58212200-58223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:58212200-58224800	Strong transcription	Brain Germinal Matrix	brain
44	chr12:58212400-58217000	Strong transcription	NH-A	brain
45	chr12:58212400-58222600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:58212400-58222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:58212400-58222800	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:58212400-58222800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:58212400-58223600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:58212400-58223600	Strong transcription	Monocytes-CD14+_RO01746	blood

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