Variant report

Variant	rs1179451
Chromosome Location	chr12:120807172-120807173
allele	C/T
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	POLR2A	chr12:120807013-120807471	HCT-116	colon:	n/a	n/a
2	POLR2A	chr12:120806211-120807378	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr12:120806815-120807378	HEK293	kidney:	n/a	n/a
4	POLR2A	chr12:120806837-120807502	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr12:120806007-120807796	H1-neurons	neurons:	n/a	chr12:120806454-120806467 chr12:120807182-120807195 chr12:120806586-120806599 chr12:120806454-120806467
6	POLR2A	chr12:120807082-120807198	ProgFib	skin:	n/a	n/a
7	POLR2A	chr12:120807015-120807449	HCT-116	colon:	n/a	n/a
8	ZBTB7A	chr12:120807071-120807597	ECC-1	luminal epithelium:	n/a	chr12:120807206-120807217
9	POLR2A	chr12:120807044-120807402	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr12:120807033-120807427	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:120806278-120807409	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167

Variant related genes	Relation type
RPS27P25	TF binding region
MSI1	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1184532	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs206948	0.85[ASN][1000 genomes]
rs206949	0.86[ASN][1000 genomes]
rs206952	0.85[ASN][1000 genomes]
rs2951690	0.86[ASN][1000 genomes]
rs4767890	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	esv3323244	chr12:120805194-120807742	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3393755	chr12:120805594-120808342	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3427204	chr12:120805794-120808192	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120804800-120807800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120804800-120807800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:120805000-120807800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:120805000-120808000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120805200-120808000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:120805400-120807400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:120805400-120807400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:120805400-120807600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:120805400-120807600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:120805600-120807200	Active TSS	HSMM	muscle
11	chr12:120805600-120807400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:120805600-120807400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:120805600-120807400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:120805600-120807400	Active TSS	Brain Angular Gyrus	brain
15	chr12:120805600-120807400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:120805600-120807600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:120805600-120807800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:120805600-120807800	Active TSS	Right Atrium	heart
19	chr12:120805600-120808000	Active TSS	Left Ventricle	heart
20	chr12:120805800-120807200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:120805800-120807400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:120805800-120807400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:120805800-120807400	Active TSS	Brain Cingulate Gyrus	brain
24	chr12:120805800-120807400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr12:120805800-120807400	Bivalent/Poised TSS	Esophagus	oesophagus
26	chr12:120805800-120807400	Active TSS	Gastric	stomach
27	chr12:120805800-120807400	Active TSS	Pancreas	Pancrea
28	chr12:120805800-120807400	Active TSS	Psoas Muscle	Psoas
29	chr12:120805800-120807600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:120805800-120807600	Active TSS	Duodenum Mucosa	Duodenum
31	chr12:120805800-120807600	Active TSS	Fetal Brain Female	brain
32	chr12:120805800-120807600	Active TSS	Rectal Smooth Muscle	rectum
33	chr12:120805800-120808000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:120805800-120808200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:120806000-120807200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:120806000-120807200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:120806000-120807200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:120806000-120807200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:120806000-120807200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr12:120806000-120807200	Weak transcription	Fetal Brain Male	brain
41	chr12:120806000-120807200	Weak transcription	Fetal Lung	lung
42	chr12:120806000-120807200	Active TSS	Fetal Muscle Leg	muscle
43	chr12:120806000-120807200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:120806000-120807200	Active TSS	HepG2	liver
45	chr12:120806000-120807400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:120806000-120807400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:120806000-120807400	Enhancers	Primary B cells from cord blood	blood
48	chr12:120806000-120807400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:120806000-120807400	Active TSS	Brain Anterior Caudate	brain
50	chr12:120806000-120807400	Active TSS	Fetal Intestine Small	intestine

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