Variant report

Variant	rs550217679
Chromosome Location	chr12:120696235-120696236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120694717..120696414-chr12:120727839..120730825,2	K562	blood:
2	chr12:120692902..120700386-chr12:120700764..120704596,11	K562	blood:
3	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
4	chr12:120684210..120686859-chr12:120695262..120697091,2	K562	blood:
5	chr12:120673268..120675203-chr12:120695406..120697160,2	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000089159	Chromatin interaction

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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised 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	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
2	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
4	chr12:120690400-120697800	Weak transcription	Colonic Mucosa	Colon
5	chr12:120690400-120700400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:120691600-120699800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:120691800-120699800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:120692200-120697400	Enhancers	Adipose Nuclei	Adipose
9	chr12:120692400-120697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:120692400-120700000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:120692800-120696400	Enhancers	Left Ventricle	heart
12	chr12:120692800-120697400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:120693000-120698000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:120693200-120696400	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:120693200-120698400	Enhancers	HUVEC	blood vessel
16	chr12:120693200-120699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:120693200-120699600	Weak transcription	Fetal Thymus	thymus
18	chr12:120693200-120700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:120693200-120700000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:120693200-120700000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:120693200-120700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:120693400-120699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:120694000-120696400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:120694000-120696400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:120694000-120696400	Enhancers	Right Ventricle	heart
26	chr12:120694000-120696600	Enhancers	Brain Substantia Nigra	brain
27	chr12:120694000-120696600	Enhancers	Right Atrium	heart
28	chr12:120694000-120696800	Enhancers	Lung	lung
29	chr12:120694000-120697600	Enhancers	Primary T cells from cord blood	blood
30	chr12:120694000-120697600	Enhancers	Fetal Muscle Trunk	muscle
31	chr12:120694000-120697800	Enhancers	NHLF	lung
32	chr12:120694000-120698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120694000-120699600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:120694000-120699800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:120694000-120700400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr12:120694200-120696400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:120694200-120696400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:120694200-120696400	Enhancers	Fetal Heart	heart
39	chr12:120694200-120696400	Enhancers	Ovary	ovary
40	chr12:120694200-120696400	Enhancers	Pancreas	Pancrea
41	chr12:120694200-120696400	Enhancers	Psoas Muscle	Psoas
42	chr12:120694200-120696400	Enhancers	Stomach Mucosa	stomach
43	chr12:120694200-120696400	Enhancers	Spleen	Spleen
44	chr12:120694200-120696600	Enhancers	Fetal Stomach	stomach
45	chr12:120694200-120696600	Enhancers	HMEC	breast
46	chr12:120694200-120698600	Enhancers	Fetal Intestine Large	intestine
47	chr12:120694200-120699600	Enhancers	HepG2	liver
48	chr12:120694200-120700200	Genic enhancers	Fetal Intestine Small	intestine
49	chr12:120694400-120696400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:120694400-120696600	Enhancers	Brain Cingulate Gyrus	brain

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