Variant report

Variant	rs139192081
Chromosome Location	chr3:133291076-133291077
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	JUND	chr3:133290875-133293721	GM12878	blood:	n/a	chr3:133291396-133291404 chr3:133291395-133291405 chr3:133292292-133292303 chr3:133292374-133292383 chr3:133291395-133291405 chr3:133291397-133291404 chr3:133291396-133291404 chr3:133292333-133292342
2	POLR2A	chr3:133291012-133295811	GM12878	blood:	n/a	n/a
3	POU2F2	chr3:133290845-133293004	GM12878	blood:	n/a	chr3:133292242-133292252 chr3:133292242-133292252 chr3:133292243-133292253 chr3:133291484-133291494 chr3:133292243-133292254 chr3:133291485-133291493 chr3:133292238-133292259 chr3:133292237-133292259 chr3:133292239-133292257 chr3:133291481-133291494 chr3:133292244-133292252 chr3:133291480-133291498
4	RELA	chr3:133291044-133292965	GM15510	blood:	n/a	n/a
5	FOXM1	chr3:133291022-133292799	GM12878	blood:	n/a	n/a
6	PAX5	chr3:133290988-133291212	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr3:133291075-133292831	GM12878	blood:	n/a	n/a
8	ZNF384	chr3:133290747-133292204	GM12878	blood:	n/a	n/a
9	ATF2	chr3:133290917-133292593	GM12878	blood:	n/a	n/a
10	MTA3	chr3:133290573-133292825	GM12878	blood:	n/a	n/a
11	SPI1	chr3:133290943-133291939	GM12878	blood:	n/a	chr3:133291442-133291455 chr3:133291443-133291456
12	POLR2A	chr3:133291035-133294560	GM12892	blood:	n/a	n/a
13	PML	chr3:133291074-133292836	GM12878	blood:	n/a	chr3:133291397-133291406
14	POLR2A	chr3:133290995-133294601	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:133290907-133294423	GM12892	blood:	n/a	n/a
16	NFIC	chr3:133291067-133292260	GM12878	blood:	n/a	n/a
17	RUNX3	chr3:133291057-133292380	GM12878	blood:	n/a	n/a
18	RELA	chr3:133290901-133292723	GM18951	blood:	n/a	n/a
19	POLR2A	chr3:133290773-133295423	GM12878	blood:	n/a	n/a
20	RUNX3	chr3:133290920-133292310	GM12878	blood:	n/a	n/a
21	FOXM1	chr3:133290997-133292187	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:133290975-133294588	GM18505	blood:	n/a	n/a
23	NFIC	chr3:133290819-133292278	GM12878	blood:	n/a	n/a
24	YY1	chr3:133290947-133291578	GM12878	blood:	n/a	n/a
25	CEBPB	chr3:133290857-133292235	GM12878	blood:	n/a	chr3:133291668-133291681 chr3:133291668-133291681

No.	Distal block	Cell Line	Cell type
1	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
2	chr3:133207094..133210649-chr3:133290648..133294454,4	MCF-7	breast:
3	chr3:133287190..133289166-chr3:133290175..133292220,2	K562	blood:

Variant related genes	Relation type
CDV3	TF binding region
ENSG00000214301	Chromatin interaction
ENSG00000249993	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	esv1817019	chr3:133290960-133293461	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
2	nsv591821	chr3:133290960-133293591	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3393233	chr3:133291062-133294360	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133285000-133291600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:133286600-133291800	Enhancers	HMEC	breast
3	chr3:133286800-133291600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:133287000-133291800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:133287000-133291800	Enhancers	HSMMtube	muscle
6	chr3:133287400-133291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:133287400-133291600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:133287800-133291200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:133287800-133291400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:133287800-133291600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:133288000-133291400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:133288000-133291600	Enhancers	Osteobl	bone
13	chr3:133288000-133292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:133289000-133291400	Weak transcription	Adipose Nuclei	Adipose
15	chr3:133289200-133291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:133289200-133291400	Weak transcription	Fetal Lung	lung
17	chr3:133289200-133291600	Enhancers	HUVEC	blood vessel
18	chr3:133289400-133291200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:133289400-133291200	Weak transcription	Fetal Heart	heart
20	chr3:133289400-133291400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:133289400-133291400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:133289400-133291400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:133289400-133291600	Weak transcription	Right Atrium	heart
24	chr3:133289400-133292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:133289600-133291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:133289600-133291400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:133289600-133291400	Enhancers	NH-A	brain
28	chr3:133289600-133291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:133289600-133291600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:133289600-133291600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:133289600-133291600	Weak transcription	Fetal Intestine Large	intestine
32	chr3:133289600-133291600	Weak transcription	Psoas Muscle	Psoas
33	chr3:133289600-133292400	Weak transcription	Esophagus	oesophagus
34	chr3:133289600-133292400	Weak transcription	Lung	lung
35	chr3:133289800-133291400	Enhancers	K562	blood
36	chr3:133289800-133291800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:133289800-133292400	Weak transcription	Small Intestine	intestine
38	chr3:133289800-133293200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:133290000-133291200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:133290000-133291200	Weak transcription	Stomach Mucosa	stomach
41	chr3:133290000-133291200	Weak transcription	Hela-S3	cervix
42	chr3:133290000-133291400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:133290000-133291400	Weak transcription	HepG2	liver
44	chr3:133290000-133291600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:133290000-133291800	Weak transcription	Aorta	Aorta
46	chr3:133290000-133291800	Weak transcription	Left Ventricle	heart
47	chr3:133290200-133291200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:133290200-133291200	Weak transcription	NHDF-Ad	bronchial
49	chr3:133290200-133291200	Weak transcription	NHEK	skin
50	chr3:133290200-133291200	Weak transcription	NHLF	lung

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