Variant report

Variant	rs572503010
Chromosome Location	chr8:131006323-131006324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130986346..130989213-chr8:131003390..131006806,3	K562	blood:
2	chr8:130966636..130968344-chr8:131006185..131008673,2	MCF-7	breast:
3	chr8:130996585..131001100-chr8:131002410..131006763,8	K562	blood:
4	chr8:130994958..130999216-chr8:131005349..131009996,7	MCF-7	breast:

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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130996600-131009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
4	chr8:130997000-131006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:130997000-131006800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:130997000-131006800	Weak transcription	Right Atrium	heart
7	chr8:130997000-131007000	Weak transcription	HSMMtube	muscle
8	chr8:130997000-131007600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:130997000-131008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:130997000-131008600	Weak transcription	Osteobl	bone
11	chr8:130997000-131009800	Weak transcription	Fetal Heart	heart
12	chr8:130997600-131007200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:130998400-131006600	Weak transcription	Esophagus	oesophagus
14	chr8:130998400-131006800	Weak transcription	Small Intestine	intestine
15	chr8:130998400-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:130998400-131007400	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:130998400-131008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:130998400-131009000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:130998600-131007000	Weak transcription	Hela-S3	cervix
21	chr8:130998600-131009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:130998600-131009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:130998800-131006400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:130999000-131006600	Weak transcription	Brain Angular Gyrus	brain
25	chr8:130999200-131006400	Weak transcription	Gastric	stomach
26	chr8:130999200-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:130999400-131006800	Weak transcription	Pancreas	Pancrea
28	chr8:130999400-131008200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:130999600-131007000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:130999600-131008000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:131000400-131006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:131000400-131008400	Weak transcription	Fetal Stomach	stomach
33	chr8:131000600-131006400	Weak transcription	Fetal Thymus	thymus
34	chr8:131000800-131006400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:131000800-131006800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:131001200-131008600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:131001400-131006600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:131001400-131008600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:131001600-131006600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:131001600-131009800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:131001800-131007400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:131001800-131009400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:131001800-131012000	Weak transcription	GM12878-XiMat	blood
44	chr8:131002800-131006400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:131003400-131006400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:131003600-131012000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:131003800-131009000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr8:131004000-131007800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:131004200-131009200	Enhancers	Spleen	Spleen
50	chr8:131004200-131009400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links