Variant report

Variant	rs375471240
Chromosome Location	chr6:114225180-114225181
allele	A/G
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	BHLHE40	chr6:114225041-114225347	HepG2	liver:	n/a	n/a
2	TAF1	chr6:114224940-114225435	PFSK-1	brain:	n/a	n/a
3	REST	chr6:114224790-114225474	PFSK-1	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
4	KAP1	chr6:114225180-114225355	U2OS	brain:	n/a	n/a
5	ELF1	chr6:114225156-114225407	K562	blood:	n/a	chr6:114225254-114225267
6	SIN3AK20	chr6:114225057-114225472	PFSK-1	brain:	n/a	n/a
7	REST	chr6:114224710-114225535	PFSK-1	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
8	POLR2A	chr6:114225047-114225438	PFSK-1	brain:	n/a	n/a
9	SIN3AK20	chr6:114224922-114225393	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000175967	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830779	chr6:114206534-114246099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv988450	chr6:114219286-114225360	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv3471887	chr6:114221959-114226957	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv3471890	chr6:114223284-114226132	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv3471889	chr6:114223520-114225365	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv3471888	chr6:114223659-114225557	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv9147	chr6:114223711-114225278	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv820921	chr6:114223813-114225246	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv823826	chr6:114223813-114225246	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv18218	chr6:114224029-114225246	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv604538	chr6:114224070-114225256	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv1822093	chr6:114224070-114225811	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
16	esv1820478	chr6:114224070-114226445	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	nsv604540	chr6:114224133-114225256	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114223000-114225200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114223000-114225200	Weak transcription	HUVEC	blood vessel
3	chr6:114223200-114225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:114223400-114225200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:114223400-114225200	Weak transcription	Osteobl	bone
6	chr6:114223600-114225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:114223600-114225200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:114223800-114225200	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:114223800-114225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:114224600-114226200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:114224800-114226000	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:114224800-114226600	Enhancers	Fetal Stomach	stomach
13	chr6:114225000-114225200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:114225000-114225200	Enhancers	Adipose Nuclei	Adipose
15	chr6:114225000-114225200	Active TSS	HepG2	liver
16	chr6:114225000-114225400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:114225000-114225400	Enhancers	Esophagus	oesophagus
18	chr6:114225000-114225400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:114225000-114225600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:114225000-114225800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:114225000-114225800	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:114225000-114225800	Enhancers	Right Ventricle	heart
23	chr6:114225000-114225800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:114225000-114225800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr6:114225000-114225800	Enhancers	NH-A	brain
26	chr6:114225000-114226000	Enhancers	Ovary	ovary
27	chr6:114225000-114226000	Enhancers	NHDF-Ad	bronchial
28	chr6:114225000-114226200	Enhancers	Fetal Heart	heart
29	chr6:114225000-114226200	Enhancers	Fetal Muscle Leg	muscle
30	chr6:114225000-114226400	Enhancers	Fetal Lung	lung
31	chr6:114225000-114226600	Enhancers	Placenta	Placenta

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