Variant report

Variant	rs11552470
Chromosome Location	chr12:56679776-56679777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56679710-56679811	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:56679147-56680037	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56679727-56679777	HNPCEpiC	eye:	n/a
2	chr12:56679727-56679777	H1-hESC	embryonic stem cell:	embryo
3	chr12:56679727-56679777	Hepatocyte	liver:	n/a
4	chr12:56679727-56679777	SAEC	small airway:	n/a
5	chr12:56679727-56679777	HRE	kidney:	n/a
6	chr12:56679727-56679777	T-47D	breast:	n/a
7	chr12:56679727-56679777	SK-N-MC	brain:	n/a
8	chr12:56679727-56679777	MCF-7	breast:	n/a
9	chr12:56679727-56679777	HEEpiC	esophagus:	n/a
10	chr12:56679727-56679777	CMK	blood:	n/a
11	chr12:56679727-56679777	HAEpiC	amniotic membrane:	n/a
12	chr12:56679727-56679777	GM06990	blood:	n/a
13	chr12:56679727-56679777	AoSMC	blood vessel:	n/a
14	chr12:56679727-56679777	HepG2	liver:	n/a
15	chr12:56679727-56679777	Hela-S3	cervix:	n/a
16	chr12:56679727-56679777	PrEC	prostate:	n/a
17	chr12:56679727-56679777	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:56679727-56679777	AG09319	gingival:	n/a
19	chr12:56679727-56679777	HEK293	kidney:	embryo
20	chr12:56679727-56679777	U87	brain:	n/a
21	chr12:56679727-56679777	LNCaP	prostate:	n/a
22	chr12:56679727-56679777	Caco-2	colon:	n/a
23	chr12:56679727-56679777	AG04450	lung:	fetal
24	chr12:56679727-56679777	A549	lung:	n/a
25	chr12:56679727-56679777	ovcar-3	ovarian:	n/a
26	chr12:56679727-56679777	HCM	heart:	n/a
27	chr12:56679727-56679777	HMEC	breast:	n/a
28	chr12:56679727-56679777	SK-N-SH	brain:	n/a
29	chr12:56679727-56679777	SK-N-SH_RA	brain:	n/a
30	chr12:56679727-56679777	PANC-1	pancreas:	n/a
31	chr12:56679727-56679777	BE2_C	brain:	n/a
32	chr12:56679727-56679777	GM12891	blood:	n/a
33	chr12:56679727-56679777	IMR90	lung:	fetal
34	chr12:56679727-56679777	AG10803	skin:	n/a
35	chr12:56679727-56679777	HCF	heart:	n/a
36	chr12:56679727-56679777	GM12878	blood:	n/a
37	chr12:56679727-56679777	HUVEC	blood vessel:	n/a
38	chr12:56679727-56679777	AG09309	skin:	n/a
39	chr12:56679727-56679777	HIPEpiC	eye:	n/a
40	chr12:56679727-56679777	HCT-116	colon:	n/a
41	chr12:56679727-56679777	NH-A	brain:	n/a
42	chr12:56679727-56679777	HRPEpiC	eye:	n/a
43	chr12:56679727-56679777	AG04449	skin:	fetal
44	chr12:56679727-56679777	GM12892	blood:	n/a
45	chr12:56679727-56679777	ProgFib	skin:	n/a
46	chr12:56679727-56679777	K562	blood:	n/a
47	chr12:56679727-56679777	SKMC	muscle:	n/a
48	chr12:56679727-56679777	NHDF-neo	bronchial:	n/a
49	chr12:56679727-56679777	HRCEpiC	kidney:	n/a
50	chr12:56679727-56679777	Jurkat	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56614513..56617977-chr12:56679402..56681953,3	K562	blood:
2	chr12:56673715..56677406-chr12:56679436..56684365,5	K562	blood:
3	chr12:56679574..56682384-chr12:56692383..56696875,5	K562	blood:
4	chr12:56661026..56663843-chr12:56677963..56681395,3	K562	blood:
5	chr12:56679574..56681804-chr12:56694461..56697113,2	K562	blood:
6	chr12:56659455..56662526-chr12:56676031..56680464,4	K562	blood:
7	chr12:56510082..56512448-chr12:56678488..56681005,3	MCF-7	breast:

No data

Variant related genes	Relation type
CS	TF binding region
CS	CpG island
ENSG00000229117	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000181852	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12298573	1.00[MEX][hapmap]
rs2271191	1.00[MEX][hapmap]

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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56661400-56684400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:56662000-56690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:56662400-56680800	Strong transcription	Brain Hippocampus Middle	brain
4	chr12:56662400-56692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:56662600-56680800	Strong transcription	Placenta	Placenta
6	chr12:56662600-56681000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr12:56662600-56681000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:56662600-56681400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:56662600-56682800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:56662600-56685400	Strong transcription	Fetal Thymus	thymus
11	chr12:56662600-56686000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:56662600-56690000	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:56662800-56680000	Strong transcription	Lung	lung
14	chr12:56662800-56680600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:56662800-56680800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:56662800-56680800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:56662800-56680800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:56662800-56680800	Strong transcription	Thymus	Thymus
19	chr12:56662800-56681000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:56662800-56681000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:56662800-56682000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:56662800-56682200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:56662800-56682800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:56662800-56683200	Strong transcription	Dnd41	blood
25	chr12:56662800-56686400	Strong transcription	Fetal Stomach	stomach
26	chr12:56663000-56680600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:56663000-56680600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:56663000-56692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:56663200-56680400	Strong transcription	Osteobl	bone
30	chr12:56663200-56680800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:56663200-56685600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:56663400-56682200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:56663400-56687000	Strong transcription	Fetal Intestine Small	intestine
34	chr12:56663600-56680400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:56663600-56680600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:56663600-56680800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:56663600-56684600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:56663800-56680600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:56663800-56680600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:56663800-56680800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:56663800-56684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:56663800-56685600	Strong transcription	Fetal Intestine Large	intestine
43	chr12:56663800-56685800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:56664000-56680000	Strong transcription	HUVEC	blood vessel
45	chr12:56664000-56681200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:56664000-56682600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:56664200-56680800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:56664400-56680800	Strong transcription	Brain Germinal Matrix	brain
49	chr12:56664800-56682800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:56666000-56680800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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