Variant report

Variant	rs551998332
Chromosome Location	chr12:4462181-4462182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv275025	chr12:4441705-4462505	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv528492	chr12:4462161-4473329	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
2	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
5	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
6	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
7	chr12:4433200-4463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:4434000-4465000	Weak transcription	Esophagus	oesophagus
9	chr12:4441000-4465600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:4441800-4463600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:4443400-4464800	Weak transcription	Fetal Brain Male	brain
12	chr12:4443600-4463400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:4447400-4464800	Weak transcription	Right Ventricle	heart
14	chr12:4447600-4462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:4447600-4464400	Weak transcription	Spleen	Spleen
16	chr12:4447600-4464800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:4447800-4464200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:4448000-4462600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:4448000-4464800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:4448600-4462600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:4449000-4463800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:4449200-4462200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:4449200-4465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:4449400-4466000	Weak transcription	NHDF-Ad	bronchial
25	chr12:4450000-4465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:4455600-4465000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:4456000-4462600	Strong transcription	Primary B cells from cord blood	blood
28	chr12:4456000-4462600	Strong transcription	HSMM	muscle
29	chr12:4456000-4463000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:4456000-4463600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:4456000-4463800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:4456000-4463800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:4456000-4463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:4456000-4463800	Strong transcription	HMEC	breast
35	chr12:4456000-4464000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:4456000-4464800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:4456000-4464800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:4456000-4465200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:4456400-4464800	Weak transcription	Brain Angular Gyrus	brain
40	chr12:4457600-4462800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:4457600-4462800	Strong transcription	GM12878-XiMat	blood
42	chr12:4457600-4463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:4457600-4463800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:4457600-4463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:4457600-4464000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:4457800-4463800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:4458000-4462600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:4458000-4462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:4458000-4464800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:4458200-4462800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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