Variant report

Variant	rs533401518
Chromosome Location	chr12:104381514-104381515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3367328	chr12:104379622-104382920	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a
4	esv3415317	chr12:104379622-104383320	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a
5	nsv973112	chr12:104380761-104381760	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	lncRNA miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
3	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
5	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:104364600-104383800	Strong transcription	Dnd41	blood
8	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
15	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104370600-104384000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:104370600-104385000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:104370800-104381600	Strong transcription	Fetal Lung	lung
22	chr12:104370800-104381600	Strong transcription	Left Ventricle	heart
23	chr12:104371000-104381600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:104372400-104382200	Weak transcription	Stomach Mucosa	stomach
25	chr12:104372800-104382200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:104372800-104384800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:104373600-104384800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:104376800-104386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:104377800-104390200	Weak transcription	Fetal Heart	heart
30	chr12:104377800-104391000	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:104379400-104385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:104379600-104382200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:104379600-104386200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104379600-104387000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:104379800-104382400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:104379800-104386200	Weak transcription	NHDF-Ad	bronchial
38	chr12:104380200-104386200	Weak transcription	Small Intestine	intestine
39	chr12:104380600-104383200	Weak transcription	Primary B cells from cord blood	blood
40	chr12:104380600-104385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104380600-104388000	Weak transcription	NHEK	skin
42	chr12:104380800-104381600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:104380800-104381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:104380800-104382800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:104380800-104383000	Weak transcription	Gastric	stomach
46	chr12:104380800-104383000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:104380800-104383000	Weak transcription	Hela-S3	cervix
48	chr12:104380800-104384000	Weak transcription	Fetal Intestine Small	intestine
49	chr12:104380800-104385000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:104380800-104386000	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links