Variant report

Variant	rs34713147
Chromosome Location	chr12:57551015-57551016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57548987..57552040-chr12:57553408..57556684,3	K562	blood:
2	chr12:57545114..57546805-chr12:57549021..57551605,2	K562	blood:
3	chr12:57525581..57527923-chr12:57550498..57552391,2	MCF-7	breast:
4	chr12:57544895..57546805-chr12:57548251..57551605,3	K562	blood:

Variant related genes	Relation type
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34293059	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34474417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34743301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35792438	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35842116	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
3	chr12:57539400-57556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:57540600-57569400	Strong transcription	Brain Germinal Matrix	brain
5	chr12:57541600-57560800	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:57542200-57565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:57543200-57558600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:57543400-57558400	Weak transcription	A549	lung
11	chr12:57543800-57555000	Weak transcription	Fetal Heart	heart
12	chr12:57544800-57555000	Weak transcription	Fetal Kidney	kidney
13	chr12:57546400-57551800	Strong transcription	Fetal Intestine Large	intestine
14	chr12:57546600-57565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:57546800-57553600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:57546800-57554000	Genic enhancers	Adipose Nuclei	Adipose
17	chr12:57546800-57557000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:57547000-57551800	Strong transcription	Fetal Intestine Small	intestine
19	chr12:57547000-57552000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:57547000-57555200	Weak transcription	HMEC	breast
21	chr12:57547000-57556200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57547000-57565200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:57547000-57575600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:57547000-57575600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:57547200-57551800	Strong transcription	Fetal Lung	lung
27	chr12:57547200-57552000	Strong transcription	Fetal Stomach	stomach
28	chr12:57547200-57555200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:57547200-57558800	Weak transcription	NHEK	skin
30	chr12:57547200-57562400	Weak transcription	Small Intestine	intestine
31	chr12:57547400-57551600	Strong transcription	Esophagus	oesophagus
32	chr12:57547400-57551800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:57547400-57552000	Strong transcription	Colonic Mucosa	Colon
34	chr12:57547400-57552000	Weak transcription	Right Atrium	heart
35	chr12:57547400-57554000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:57547400-57554200	Strong transcription	Osteobl	bone
37	chr12:57547400-57554600	Strong transcription	NHLF	lung
38	chr12:57547400-57558400	Strong transcription	HSMMtube	muscle
39	chr12:57547400-57567400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:57547400-57575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:57547600-57551600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:57547600-57551800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr12:57547600-57552000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:57547600-57552000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:57547600-57552400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:57547600-57555000	Strong transcription	HSMM	muscle
47	chr12:57547600-57555000	Strong transcription	NH-A	brain
48	chr12:57547600-57560600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:57547600-57575400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:57547600-57575600	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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