Variant report

Variant	rs531353994
Chromosome Location	chr12:120803999-120804000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
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	chr12:120803959-120804049	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYBL2	chr12:120803444-120804007	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:
2	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
3	chr12:120801772..120804938-chr12:120832340..120834003,3	MCF-7	breast:
4	chr12:120803522..120805721-chr12:120933234..120935368,2	MCF-7	breast:
5	chr12:120727930..120729812-chr12:120802120..120804921,2	MCF-7	breast:
6	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS27P25	TF binding region
MSI1	TF binding region
ENSG00000248008	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:120799600-120804000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:120799600-120804200	Weak transcription	Left Ventricle	heart
5	chr12:120800000-120805000	Enhancers	Fetal Intestine Large	intestine
6	chr12:120800200-120804000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:120800200-120804000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
9	chr12:120800200-120805400	Weak transcription	Ovary	ovary
10	chr12:120800400-120804800	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:120800400-120805000	Weak transcription	Esophagus	oesophagus
12	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
13	chr12:120800600-120804400	Weak transcription	Fetal Heart	heart
14	chr12:120800600-120804600	Weak transcription	Right Ventricle	heart
15	chr12:120800800-120804600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:120800800-120804600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:120800800-120805000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:120801200-120804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:120801400-120804400	Weak transcription	Brain Substantia Nigra	brain
20	chr12:120801600-120804000	Enhancers	Gastric	stomach
21	chr12:120801800-120804600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:120802200-120804600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:120802200-120805200	Enhancers	Stomach Mucosa	stomach
24	chr12:120802400-120805800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr12:120802600-120804200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:120803000-120804000	Strong transcription	Fetal Kidney	kidney
27	chr12:120803000-120805600	Enhancers	Pancreas	Pancrea
28	chr12:120803200-120804400	Enhancers	Liver	Liver
29	chr12:120803200-120804600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:120803200-120804800	Enhancers	Brain Hippocampus Middle	brain
31	chr12:120803200-120805000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:120803200-120805600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:120803400-120804000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:120803400-120804000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
35	chr12:120803400-120804000	Enhancers	Placenta	Placenta
36	chr12:120803400-120804200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:120803400-120804400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:120803400-120805200	Enhancers	Brain Anterior Caudate	brain
39	chr12:120803400-120805400	Genic enhancers	Fetal Stomach	stomach
40	chr12:120803400-120806000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:120803600-120804600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:120803600-120804600	Weak transcription	Colonic Mucosa	Colon
43	chr12:120803600-120804600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:120803600-120804800	Genic enhancers	H1 Cell Line	embryonic stem cell
45	chr12:120803600-120804800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:120803600-120805400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:120803600-120805400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr12:120803600-120805600	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:120803600-120806000	Enhancers	Fetal Brain Male	brain
50	chr12:120803600-120806200	Weak transcription	Lung	lung

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