Variant report

Variant	rs112999515
Chromosome Location	chr1:161007464-161007465
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161006227..161009098-chr1:161086419..161089402,2	MCF-7	breast:
2	chr1:161007165..161010190-chr1:161058502..161060475,3	MCF-7	breast:
3	chr1:161007047..161009717-chr1:161100084..161102311,2	K562	blood:
4	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
5	chr1:161006354..161009878-chr1:161042497..161045575,4	MCF-7	breast:
6	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
7	chr1:161007064..161010778-chr1:161101040..161104167,3	MCF-7	breast:
8	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
9	chr1:161006846..161009787-chr1:161123441..161125743,2	MCF-7	breast:
10	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
11	chr1:161005808..161012985-chr1:161064732..161070101,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143256	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000143222	Chromatin interaction
ENSG00000158793	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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv947201	chr1:161006051-161013276	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv548059	chr1:161007326-161010791	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160991200-161007800	Weak transcription	HSMMtube	muscle
2	chr1:160991800-161007600	Weak transcription	Thymus	Thymus
3	chr1:160991800-161007800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:160992200-161008000	Weak transcription	HUVEC	blood vessel
5	chr1:160997200-161008000	Weak transcription	A549	lung
6	chr1:161001800-161007800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:161002000-161007600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:161002200-161007600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:161003000-161008200	Weak transcription	Osteobl	bone
10	chr1:161003200-161007600	Weak transcription	HSMM	muscle
11	chr1:161003200-161007800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:161003200-161008800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:161003800-161007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:161004000-161007600	Weak transcription	HMEC	breast
15	chr1:161004000-161009200	Weak transcription	Hela-S3	cervix
16	chr1:161004200-161008000	Weak transcription	Spleen	Spleen
17	chr1:161005000-161007600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:161005000-161009400	Weak transcription	K562	blood
19	chr1:161005200-161007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:161005600-161007600	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:161005600-161008000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:161005800-161007600	Weak transcription	Fetal Kidney	kidney
23	chr1:161005800-161008200	Weak transcription	Right Ventricle	heart
24	chr1:161005800-161008200	Weak transcription	NHLF	lung
25	chr1:161006000-161008000	Weak transcription	Brain Anterior Caudate	brain
26	chr1:161006000-161008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:161006400-161008000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:161006600-161007800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:161006600-161008200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:161006800-161007600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:161006800-161007600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:161006800-161007600	Enhancers	Esophagus	oesophagus
33	chr1:161006800-161007600	Strong transcription	Lung	lung
34	chr1:161006800-161007600	Enhancers	HepG2	liver
35	chr1:161007000-161007600	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:161007000-161007600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:161007000-161007600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:161007000-161007600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:161007000-161007600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:161007000-161007600	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:161007000-161007600	Enhancers	Fetal Intestine Large	intestine
42	chr1:161007000-161007600	Enhancers	Fetal Intestine Small	intestine
43	chr1:161007000-161007600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:161007000-161007600	Enhancers	Dnd41	blood
45	chr1:161007000-161007600	Genic enhancers	NHEK	skin
46	chr1:161007000-161007800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:161007000-161007800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:161007000-161007800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:161007000-161007800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:161007000-161007800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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