Variant report

Variant	rs542381993
Chromosome Location	chr4:3304411-3304412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3298898..3300688-chr4:3301683..3304655,2	K562	blood:
2	chr4:3302327..3305521-chr4:3308441..3313111,5	MCF-7	breast:
3	chr4:3299078..3301560-chr4:3303600..3305932,2	MCF-7	breast:
4	chr4:3294486..3297470-chr4:3303664..3305673,2	MCF-7	breast:
5	chr4:3294026..3296810-chr4:3301953..3306532,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv3327891	chr4:3304201-3304467	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3294600-3308800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3296000-3306000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:3296800-3306800	Weak transcription	Pancreas	Pancrea
5	chr4:3298800-3306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:3299200-3310000	Enhancers	HUVEC	blood vessel
7	chr4:3299600-3306200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:3299600-3306200	Weak transcription	NHLF	lung
9	chr4:3299600-3306600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
11	chr4:3300600-3306200	Enhancers	Brain Germinal Matrix	brain
12	chr4:3300800-3304600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:3300800-3305400	Enhancers	Lung	lung
14	chr4:3300800-3309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:3301000-3310400	Enhancers	Fetal Muscle Leg	muscle
16	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:3301400-3306200	Weak transcription	Ovary	ovary
18	chr4:3301400-3306400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:3301400-3307000	Weak transcription	Fetal Intestine Large	intestine
20	chr4:3301600-3304800	Enhancers	Stomach Mucosa	stomach
21	chr4:3301600-3305000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:3301600-3306400	Weak transcription	Fetal Kidney	kidney
23	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
24	chr4:3301800-3305200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:3301800-3305200	Enhancers	Gastric	stomach
26	chr4:3301800-3305400	Genic enhancers	Fetal Stomach	stomach
27	chr4:3301800-3306200	Weak transcription	Adipose Nuclei	Adipose
28	chr4:3301800-3306200	Weak transcription	Right Atrium	heart
29	chr4:3302000-3304800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:3302000-3305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:3302000-3306000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:3302000-3306200	Weak transcription	Left Ventricle	heart
33	chr4:3302200-3304600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:3302200-3304600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:3302200-3305600	Weak transcription	Brain Angular Gyrus	brain
36	chr4:3302200-3305600	Weak transcription	Fetal Heart	heart
37	chr4:3302200-3306400	Weak transcription	Psoas Muscle	Psoas
38	chr4:3302400-3304800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:3302400-3306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:3302400-3306200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:3302400-3306200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:3302600-3306000	Weak transcription	Fetal Lung	lung
43	chr4:3303000-3305000	Enhancers	HSMM	muscle
44	chr4:3303000-3308000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:3303200-3304600	Enhancers	Primary B cells from cord blood	blood
46	chr4:3303200-3304600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:3303200-3304600	Enhancers	Fetal Thymus	thymus
48	chr4:3303200-3305200	Enhancers	GM12878-XiMat	blood
49	chr4:3303200-3305800	Enhancers	Primary B cells from peripheral blood	blood
50	chr4:3303200-3306000	Enhancers	Brain Hippocampus Middle	brain

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