Variant report

Variant	rs199624323
Chromosome Location	chr3:133473347-133473348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133300041..133302235-chr3:133472033..133474036,2	K562	blood:
2	chr3:133465852..133469783-chr3:133471795..133476120,4	K562	blood:
3	chr3:133472488..133475139-chr3:133486239..133489016,2	K562	blood:

Variant related genes	Relation type
ENSG00000091513	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv877507	chr3:133465201-133473516	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3380897	chr3:133473262-133477260	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133466800-133476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133469600-133473400	Weak transcription	Adipose Nuclei	Adipose
4	chr3:133469600-133473800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:133469600-133474400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:133469600-133476400	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:133471200-133473800	Genic enhancers	Liver	Liver
8	chr3:133471400-133474800	Genic enhancers	Brain Substantia Nigra	brain
9	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:133471800-133474000	Genic enhancers	Brain Hippocampus Middle	brain
11	chr3:133471800-133477000	Genic enhancers	Brain Cingulate Gyrus	brain
12	chr3:133472000-133473400	Genic enhancers	Brain Inferior Temporal Lobe	brain
13	chr3:133472000-133474800	Enhancers	K562	blood
14	chr3:133472000-133476400	Enhancers	Esophagus	oesophagus
15	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
16	chr3:133472800-133473600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:133473000-133474200	Enhancers	NHEK	skin
18	chr3:133473000-133476800	Strong transcription	Brain Anterior Caudate	brain
19	chr3:133473200-133473800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:133473200-133473800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:133473200-133473800	Enhancers	HMEC	breast
22	chr3:133473200-133475200	Genic enhancers	HepG2	liver
23	chr3:133473200-133476200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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