Variant report

Variant	rs531490527
Chromosome Location	chr4:3310780-3310781
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	GABPA	chr4:3310751-3311022	HepG2	liver:	n/a	n/a
2	PAX5	chr4:3310731-3311045	GM12878	blood:	n/a	n/a
3	IRF4	chr4:3310744-3311101	GM12878	blood:	n/a	n/a
4	REST	chr4:3310702-3311163	PANC-1	pancreas:	n/a	n/a
5	TAF1	chr4:3310654-3311250	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000248840	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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
9	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv966506	chr4:3308550-3320391	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv3429701	chr4:3310576-3311125	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases
14	esv3381039	chr4:3310640-3311099	Enhancers Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases
15	esv3421401	chr4:3310657-3311080	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases
16	esv2178894	chr4:3310681-3311084	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases
17	esv17698	chr4:3310705-3312370	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
3	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:3303200-3310800	Enhancers	Fetal Brain Male	brain
6	chr4:3304000-3313000	Weak transcription	HepG2	liver
7	chr4:3304800-3318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:3306600-3312600	Enhancers	Lung	lung
9	chr4:3306600-3320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:3306800-3312400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:3306800-3312800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:3307000-3320600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:3307200-3318000	Weak transcription	Liver	Liver
14	chr4:3307200-3327000	Weak transcription	Fetal Kidney	kidney
15	chr4:3307400-3312200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:3307400-3325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:3307400-3326800	Weak transcription	A549	lung
18	chr4:3307600-3315000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:3307600-3322200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:3307600-3323000	Weak transcription	NH-A	brain
21	chr4:3307600-3323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:3307800-3311600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:3307800-3312200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:3307800-3319000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:3308000-3311600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:3308000-3313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:3308000-3318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:3308000-3318600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:3308000-3319800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:3308000-3322800	Weak transcription	NHDF-Ad	bronchial
31	chr4:3308000-3323600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:3308000-3323800	Weak transcription	Osteobl	bone
33	chr4:3308000-3326000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:3308000-3327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:3308200-3311800	Weak transcription	Psoas Muscle	Psoas
36	chr4:3308200-3314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:3308200-3318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:3308200-3318400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:3308200-3318600	Weak transcription	NHLF	lung
40	chr4:3308200-3319800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:3308200-3320400	Weak transcription	Fetal Heart	heart
42	chr4:3308200-3323200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:3308400-3314200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:3308400-3315000	Weak transcription	Primary T cells from cord blood	blood
45	chr4:3308400-3317800	Weak transcription	HSMM	muscle
46	chr4:3308400-3318200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:3308400-3318200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:3308400-3320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:3308400-3321400	Weak transcription	Stomach Mucosa	stomach
50	chr4:3308600-3312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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