Variant report

Variant	rs568641020
Chromosome Location	chr3:52132374-52132375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52131272..52134200-chr3:52142689..52145200,2	K562	blood:
2	chr3:52131304..52133205-chr3:52136304..52138241,3	K562	blood:
3	chr3:52125744..52128166-chr3:52131962..52134526,2	MCF-7	breast:
4	chr3:52090535..52092344-chr3:52130549..52132404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164086	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
6	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
9	nsv963259	chr3:52131542-52139351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52105800-52142400	Weak transcription	Primary B cells from cord blood	blood
2	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
3	chr3:52115800-52133000	Weak transcription	Gastric	stomach
4	chr3:52122000-52140000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:52122800-52142200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:52123600-52135200	Strong transcription	Dnd41	blood
7	chr3:52124200-52138200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:52124200-52157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:52124400-52132800	Weak transcription	Stomach Mucosa	stomach
10	chr3:52124600-52134200	Weak transcription	A549	lung
11	chr3:52124800-52142000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:52125000-52140400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:52125200-52132600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:52125400-52133400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:52125400-52138400	Weak transcription	Fetal Intestine Large	intestine
16	chr3:52125600-52132800	Strong transcription	Fetal Intestine Small	intestine
17	chr3:52125600-52135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:52125800-52133400	Strong transcription	Thymus	Thymus
19	chr3:52125800-52134200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:52125800-52139800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:52125800-52142400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:52126000-52132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:52126000-52132800	Strong transcription	Fetal Stomach	stomach
24	chr3:52126200-52135200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:52126200-52160600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:52126600-52132400	Weak transcription	Brain Angular Gyrus	brain
27	chr3:52127000-52132400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:52127000-52134600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:52127200-52132400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr3:52127400-52139200	Weak transcription	Esophagus	oesophagus
31	chr3:52127800-52132400	Weak transcription	Left Ventricle	heart
32	chr3:52128200-52140800	Weak transcription	Spleen	Spleen
33	chr3:52128400-52133000	Weak transcription	Osteobl	bone
34	chr3:52128400-52133200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:52128400-52142200	Weak transcription	NHDF-Ad	bronchial
36	chr3:52128400-52142600	Weak transcription	NH-A	brain
37	chr3:52128600-52157000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:52128800-52134600	Weak transcription	HSMM	muscle
39	chr3:52129000-52132400	Strong transcription	NHLF	lung
40	chr3:52129200-52133600	Strong transcription	HepG2	liver
41	chr3:52129200-52133600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:52129200-52155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:52129600-52133400	Strong transcription	NHEK	skin
44	chr3:52130000-52132400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:52130000-52132800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:52130000-52133200	Strong transcription	Fetal Thymus	thymus
47	chr3:52130000-52133800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:52130600-52134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:52130800-52133000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:52130800-52133200	Enhancers	Placenta Amnion	Placenta Amnion

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