Variant report

Variant	rs547460099
Chromosome Location	chr3:138067960-138067961
allele	G/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	chr3:138066816-138068028	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr3:138066706-138068544	SK-N-SH	brain:	n/a	chr3:138067205-138067219
3	POLR2A	chr3:138066747-138069640	IMR90	lung:	n/a	n/a
4	SIN3A	chr3:138066816-138068165	H1-hESC	embryonic stem cell:	n/a	chr3:138067226-138067237 chr3:138067375-138067384
5	POLR2A	chr3:138066780-138068282	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr3:138066691-138069593	HepG2	liver:	n/a	n/a
7	TCF12	chr3:138066792-138067967	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr3:138067920-138068070	HAc	cerebellar:	n/a	n/a
9	ZBTB7A	chr3:138066941-138068025	ECC-1	luminal epithelium:	n/a	chr3:138067638-138067646
10	POLR2A	chr3:138066771-138068348	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr3:138067010-138069481	NB4	blood:	n/a	n/a
12	MYC	chr3:138067060-138069574	NB4	blood:	n/a	n/a
13	REST	chr3:138066619-138068270	H1-neurons	neurons:	n/a	chr3:138067138-138067148
14	MAZ	chr3:138066677-138068334	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138067437..138068027-chr7:100025997..100026727,2	Hela-S3	cervix:
2	chr3:138065940..138068792-chr3:138150528..138153476,2	K562	blood:
3	chr3:138047736..138050493-chr3:138067682..138070270,2	MCF-7	breast:
4	chr3:138042389..138044114-chr3:138065779..138068075,2	K562	blood:

Variant related genes	Relation type
MRAS	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000158220	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000181322	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3409942	chr3:138066287-138068835	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3340290	chr3:138066687-138069235	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138066000-138068000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:138066000-138068000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:138066000-138068000	Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:138066000-138068400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:138066200-138068000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr3:138066200-138068000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:138066200-138068000	Active TSS	Fetal Lung	lung
8	chr3:138066200-138068000	Active TSS	NHDF-Ad	bronchial
9	chr3:138066200-138068200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:138066200-138068200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:138066200-138068200	Active TSS	Brain Angular Gyrus	brain
12	chr3:138066200-138068200	Active TSS	Brain Anterior Caudate	brain
13	chr3:138066200-138068200	Active TSS	Brain Cingulate Gyrus	brain
14	chr3:138066200-138068200	Active TSS	Brain Substantia Nigra	brain
15	chr3:138066200-138068200	Active TSS	Fetal Brain Female	brain
16	chr3:138066200-138068400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:138066200-138068400	Active TSS	A549	lung
18	chr3:138066200-138068600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:138066200-138069200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr3:138066200-138069200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:138066400-138068000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr3:138066400-138068000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:138066400-138068000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:138066400-138068000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:138066400-138068000	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr3:138066400-138068000	Active TSS	Brain Germinal Matrix	brain
27	chr3:138066400-138068000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr3:138066400-138068000	Active TSS	NH-A	brain
29	chr3:138066400-138068000	Active TSS	NHEK	skin
30	chr3:138066400-138068200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:138066400-138068200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:138066400-138068200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:138066400-138068200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:138066400-138068200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:138066400-138068200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:138066400-138068200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:138066400-138068200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr3:138066400-138068200	Active TSS	Psoas Muscle	Psoas
39	chr3:138066400-138068200	Active TSS	Rectal Smooth Muscle	rectum
40	chr3:138066400-138068400	Active TSS	Colon Smooth Muscle	Colon
41	chr3:138066400-138068400	Active TSS	Osteobl	bone
42	chr3:138066400-138068600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr3:138066400-138068800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:138066400-138068800	Active TSS	Duodenum Mucosa	Duodenum
45	chr3:138066400-138069800	Active TSS	Right Atrium	heart
46	chr3:138066400-138070000	Active TSS	HSMM	muscle
47	chr3:138066600-138068000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:138066600-138068000	Active TSS	Brain Hippocampus Middle	brain
49	chr3:138066600-138068000	Active TSS	Fetal Stomach	stomach
50	chr3:138066600-138068000	Active TSS	Lung	lung

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