Variant report

Variant	rs376030026
Chromosome Location	chr12:120802512-120802513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120802470-120802749	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:120798803..120801151-chr12:120802233..120803877,2	K562	blood:
2	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:
3	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
4	chr12:120801772..120804938-chr12:120832340..120834003,3	MCF-7	breast:
5	chr12:120801326..120803208-chr12:120818906..120821369,2	MCF-7	breast:
6	chr12:120727930..120729812-chr12:120802120..120804921,2	MCF-7	breast:
7	chr12:120799433..120803407-chr12:120804628..120808209,5	K562	blood:

No data

Variant related genes	Relation type
RPS27P25	TF binding region
MSI1	TF binding region
ENSG00000239881	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:120799600-120804000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:120799600-120804200	Weak transcription	Left Ventricle	heart
6	chr12:120800000-120805000	Enhancers	Fetal Intestine Large	intestine
7	chr12:120800200-120802600	Enhancers	Brain Anterior Caudate	brain
8	chr12:120800200-120803400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120800200-120804000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120800200-120804000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
12	chr12:120800200-120805400	Weak transcription	Ovary	ovary
13	chr12:120800400-120803000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:120800400-120803000	Weak transcription	Fetal Kidney	kidney
15	chr12:120800400-120804800	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:120800400-120805000	Weak transcription	Esophagus	oesophagus
17	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
18	chr12:120800600-120802600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:120800600-120802600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
20	chr12:120800600-120803400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:120800600-120804400	Weak transcription	Fetal Heart	heart
22	chr12:120800600-120804600	Weak transcription	Right Ventricle	heart
23	chr12:120800800-120803200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:120800800-120803600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:120800800-120804600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:120800800-120804600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:120800800-120805000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:120801000-120802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:120801000-120803400	Strong transcription	Fetal Stomach	stomach
30	chr12:120801200-120803000	Weak transcription	Pancreas	Pancrea
31	chr12:120801200-120803200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:120801200-120804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:120801400-120802600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:120801400-120803200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:120801400-120803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:120801400-120803600	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr12:120801400-120803800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:120801400-120804400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:120801600-120803600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:120801600-120803600	Weak transcription	Fetal Brain Male	brain
41	chr12:120801600-120803800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:120801600-120804000	Enhancers	Gastric	stomach
43	chr12:120801800-120803200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:120801800-120803400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:120801800-120803800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr12:120801800-120804600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:120802000-120802600	Strong transcription	Fetal Lung	lung
48	chr12:120802000-120803800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr12:120802200-120802600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:120802200-120803400	Genic enhancers	Fetal Brain Female	brain

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