Variant report

Variant	rs1056784
Chromosome Location	chr12:56233313-56233314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:56233208-56233344	K562	blood:	n/a	n/a
2	E2F6	chr12:56233257-56233398	K562	blood:	n/a	n/a
3	MAZ	chr12:56233173-56233328	K562	blood:	n/a	n/a
4	MAX	chr12:56233164-56233471	K562	blood:	n/a	n/a
5	EGR1	chr12:56233086-56233367	K562	blood:	n/a	chr12:56233250-56233263 chr12:56233249-56233264
6	EGR1	chr12:56233053-56233403	K562	blood:	n/a	chr12:56233250-56233263 chr12:56233249-56233264

No.	Distal block	Cell Line	Cell type
1	chr12:56136251..56138283-chr12:56233199..56235588,2	MCF-7	breast:
2	chr12:56232558..56234911-chr9:128508305..128510267,2	MCF-7	breast:
3	chr12:56232360..56237326-chr12:56316163..56320896,5	K562	blood:

Variant related genes	Relation type
MMP19	TF binding region
ENSG00000229582	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000167081	Chromatin interaction
ENSG00000135414	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11574657	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12423802	1.00[YRI][hapmap]
rs17118042	1.00[CHB][hapmap]
rs17844787	1.00[YRI][hapmap]
rs2071024	1.00[YRI][hapmap]
rs3741502	1.00[YRI][hapmap]
rs3858538	1.00[CHB][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225400-56236000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:56225400-56236000	Weak transcription	NHEK	skin
3	chr12:56225400-56236600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:56225400-56237000	Weak transcription	GM12878-XiMat	blood
5	chr12:56225600-56235200	Weak transcription	NHDF-Ad	bronchial
6	chr12:56225600-56235400	Weak transcription	HSMMtube	muscle
7	chr12:56225600-56235800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:56225600-56236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:56225600-56236000	Weak transcription	NH-A	brain
10	chr12:56225800-56236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:56226000-56235600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:56226000-56236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:56226200-56234000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:56226200-56235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:56226200-56236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:56226200-56236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:56226400-56233400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:56226400-56234800	Weak transcription	Colonic Mucosa	Colon
20	chr12:56226800-56234800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:56226800-56235800	Weak transcription	Fetal Lung	lung
22	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:56227000-56236000	Weak transcription	Right Ventricle	heart
24	chr12:56227000-56236200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:56227400-56235400	Weak transcription	Right Atrium	heart
26	chr12:56227400-56236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:56227400-56236000	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:56227400-56236000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:56227400-56236200	Weak transcription	Esophagus	oesophagus
30	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:56228000-56235000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:56228200-56233800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:56228400-56233800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:56228400-56234400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:56228600-56234800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:56228600-56235000	Strong transcription	Fetal Stomach	stomach
37	chr12:56228800-56234600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:56229000-56240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:56229400-56233600	Strong transcription	Ovary	ovary
40	chr12:56229400-56236400	Weak transcription	Thymus	Thymus
41	chr12:56229600-56234800	Strong transcription	NHLF	lung
42	chr12:56230000-56233400	Strong transcription	Adipose Nuclei	Adipose
43	chr12:56230000-56236600	Weak transcription	Fetal Intestine Large	intestine
44	chr12:56230400-56234000	Strong transcription	HSMM	muscle
45	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:56231000-56234000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:56231000-56234800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:56231200-56234000	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:56231200-56236400	Weak transcription	Fetal Intestine Small	intestine
50	chr12:56232000-56233600	Strong transcription	Aorta	Aorta

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