Variant report

Variant	rs558885621
Chromosome Location	chr12:50081155-50081156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50080427..50082261-chr12:50100297..50101923,2	MCF-7	breast:
2	chr12:50077862..50079872-chr12:50080970..50084621,3	K562	blood:
3	chr12:50080406..50083815-chr12:50089731..50092749,3	MCF-7	breast:
4	chr12:50080143..50085132-chr12:50089232..50093203,6	K562	blood:
5	chr12:50080608..50083488-chr12:50095334..50097821,2	MCF-7	breast:
6	chr12:50080058..50082112-chr12:50085223..50087570,2	MCF-7	breast:
7	chr12:50037476..50040011-chr12:50080826..50083023,2	MCF-7	breast:
8	chr12:50073227..50075348-chr12:50080508..50083212,2	MCF-7	breast:
9	chr12:50080839..50082348-chr12:50098769..50100766,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	esv3427003	chr12:50081058-50081160	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:50070000-50083400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:50074400-50081800	Weak transcription	Right Ventricle	heart
4	chr12:50075800-50082600	Weak transcription	Primary B cells from cord blood	blood
5	chr12:50077000-50082800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:50077000-50084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:50077400-50086200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:50078000-50087600	Weak transcription	Placenta	Placenta
9	chr12:50078000-50091000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:50078200-50081600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:50078200-50083400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:50078200-50083600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:50078400-50081600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:50078400-50083200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:50078600-50082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:50078600-50082000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:50078600-50083400	Weak transcription	Fetal Thymus	thymus
18	chr12:50078600-50090600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:50078600-50092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:50078800-50081400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:50078800-50081400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:50078800-50081400	Weak transcription	Osteobl	bone
23	chr12:50078800-50081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:50078800-50081800	Weak transcription	Fetal Lung	lung
25	chr12:50078800-50081800	Weak transcription	Right Atrium	heart
26	chr12:50078800-50083000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:50078800-50083000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:50078800-50083400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:50078800-50083600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:50078800-50083600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:50078800-50083600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:50078800-50083600	Weak transcription	Spleen	Spleen
33	chr12:50078800-50084600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:50078800-50088200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:50078800-50088200	Weak transcription	HSMM	muscle
36	chr12:50078800-50091800	Weak transcription	NH-A	brain
37	chr12:50078800-50092400	Weak transcription	NHLF	lung
38	chr12:50079000-50081600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:50079000-50081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:50079000-50081600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:50079000-50081600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:50079000-50083200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:50079000-50083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:50079000-50088000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:50079000-50088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:50079000-50092000	Weak transcription	Small Intestine	intestine
47	chr12:50079000-50096200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:50079200-50081600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:50079200-50081600	Weak transcription	Left Ventricle	heart
50	chr12:50079200-50081800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links