Variant report

Variant	rs112530153
Chromosome Location	chr8:61697528-61697529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61697366..61699361-chr8:61701712..61703525,2	K562	blood:
2	chr8:61697501..61700243-chr8:61705884..61707570,2	MCF-7	breast:
3	chr8:61697095..61698764-chr8:61726068..61728878,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
2	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
6	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680000-61698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
4	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
5	chr8:61681200-61698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:61681200-61700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
8	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
11	chr8:61686000-61698600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:61688800-61719600	Weak transcription	NHEK	skin
17	chr8:61689400-61702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
19	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
23	chr8:61692200-61698800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:61692200-61719400	Weak transcription	HMEC	breast
25	chr8:61692600-61699400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:61692800-61701000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
28	chr8:61693600-61697800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:61693600-61698200	Strong transcription	Dnd41	blood
30	chr8:61693800-61697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:61694400-61698600	Strong transcription	Primary B cells from cord blood	blood
34	chr8:61694800-61697600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:61694800-61704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:61694800-61708200	Weak transcription	A549	lung
37	chr8:61695000-61698800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:61695000-61699600	Weak transcription	Fetal Thymus	thymus
39	chr8:61695000-61701000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:61695000-61703800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:61695000-61703800	Weak transcription	Gastric	stomach
42	chr8:61695000-61704200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:61695000-61704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:61695000-61705000	Weak transcription	Fetal Stomach	stomach
45	chr8:61695000-61705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:61695000-61705200	Weak transcription	Adipose Nuclei	Adipose
47	chr8:61695000-61705200	Weak transcription	Liver	Liver
48	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
49	chr8:61695200-61699400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:61695200-61699600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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