Variant report

Variant	rs34736975
Chromosome Location	chr12:57562672-57562673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57520220..57523882-chr12:57558135..57563846,11	MCF-7	breast:
2	chr12:57470985..57473736-chr12:57560913..57563302,2	K562	blood:
3	chr12:57472048..57474215-chr12:57561946..57564828,2	MCF-7	breast:
4	chr12:57520113..57524524-chr12:57557752..57564598,9	MCF-7	breast:
5	chr12:57558840..57561804-chr12:57562161..57566495,4	K562	blood:
6	chr12:57548120..57550577-chr12:57562070..57564152,2	MCF-7	breast:
7	chr12:57532929..57534567-chr12:57561510..57563963,2	K562	blood:

Variant related genes	Relation type
ENSG00000166881	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34293059	1.00[ASN][1000 genomes]
rs34423990	0.89[ASN][1000 genomes]
rs34474417	1.00[ASN][1000 genomes]
rs34548137	0.89[ASN][1000 genomes]
rs34743301	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv899114	chr12:57556768-57587839	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
2	chr12:57540600-57569400	Strong transcription	Brain Germinal Matrix	brain
3	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:57542200-57565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:57546600-57565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57547000-57565200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:57547000-57575600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr12:57547000-57575600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:57547400-57567400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:57547400-57575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:57547600-57575400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:57547600-57575600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:57547800-57565000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:57547800-57565200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:57547800-57565400	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr12:57549000-57575200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:57552600-57563800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:57552600-57565000	Strong transcription	Fetal Stomach	stomach
21	chr12:57552800-57563000	Strong transcription	Ovary	ovary
22	chr12:57552800-57564200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:57552800-57566800	Weak transcription	Right Atrium	heart
24	chr12:57552800-57568400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:57552800-57575200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
27	chr12:57552800-57607000	Strong transcription	Liver	Liver
28	chr12:57553000-57565000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
30	chr12:57553600-57564600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:57553600-57565200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr12:57553800-57563600	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:57553800-57564600	Strong transcription	Colon Smooth Muscle	Colon
34	chr12:57554200-57563200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:57554400-57568800	Strong transcription	Brain Hippocampus Middle	brain
36	chr12:57555400-57583200	Weak transcription	Fetal Heart	heart
37	chr12:57556800-57564600	Strong transcription	Adipose Nuclei	Adipose
38	chr12:57557000-57565000	Strong transcription	Placenta	Placenta
39	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:57558000-57563800	Strong transcription	Colonic Mucosa	Colon
41	chr12:57558000-57565200	Strong transcription	Fetal Lung	lung
42	chr12:57558000-57575800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:57558400-57563000	Strong transcription	Brain Anterior Caudate	brain
44	chr12:57558400-57564000	Strong transcription	Aorta	Aorta
45	chr12:57558400-57564000	Strong transcription	Left Ventricle	heart
46	chr12:57558400-57565600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:57558400-57566000	Strong transcription	HepG2	liver
48	chr12:57558400-57568200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr12:57558400-57575600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:57558600-57563400	Genic enhancers	Esophagus	oesophagus

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