Variant report

Variant	rs546957168
Chromosome Location	chr1:10554681-10554682
allele	A/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10269919..10270914-chr1:10554482..10555369,2	K562	blood:
2	chr1:10488833..10492668-chr1:10552829..10556296,4	MCF-7	breast:
3	chr1:10437389..10440210-chr1:10554525..10556492,2	K562	blood:
4	chr1:10490211..10490965-chr1:10554619..10555366,4	MCF-7	breast:
5	chr1:10543950..10546722-chr1:10553163..10555710,2	K562	blood:
6	chr1:10530530..10533287-chr1:10554066..10555649,2	K562	blood:
7	chr1:10552588..10555183-chr1:10557797..10560030,2	MCF-7	breast:
8	chr1:10437477..10438175-chr1:10554437..10555190,2	MCF-7	breast:
9	chr1:10536268..10539627-chr1:10553457..10556201,3	K562	blood:
10	chr1:10490031..10491039-chr1:10554309..10555652,10	MCF-7	breast:
11	chr1:10488979..10489550-chr1:10554259..10555160,2	K562	blood:
12	chr1:10488234..10492176-chr1:10552870..10556900,4	K562	blood:
13	chr1:10489902..10490981-chr1:10554372..10555362,18	K562	blood:
14	chr1:10488879..10492501-chr1:10553959..10556720,6	MCF-7	breast:
15	chr1:10533760..10535685-chr1:10553523..10556156,3	MCF-7	breast:
16	chr1:10437203..10438150-chr1:10554425..10555351,3	K562	blood:
17	chr1:10534413..10537768-chr1:10551238..10554957,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271989	Chromatin interaction
ENSG00000054523	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000251503	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv3399371	chr1:10554487-10554826	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
2	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
3	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
4	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:10536200-10555000	Weak transcription	NH-A	brain
6	chr1:10536400-10554800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:10536400-10554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:10536400-10554800	Weak transcription	Fetal Brain Male	brain
9	chr1:10536400-10554800	Weak transcription	NHDF-Ad	bronchial
10	chr1:10536400-10555000	Weak transcription	Fetal Kidney	kidney
11	chr1:10536400-10555000	Weak transcription	HSMM	muscle
12	chr1:10536600-10554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:10536600-10555000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:10537000-10554800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:10537000-10554800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:10537600-10554800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:10540600-10555600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:10545200-10554800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:10545400-10554800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:10550000-10554800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:10550000-10554800	Weak transcription	Colonic Mucosa	Colon
22	chr1:10550000-10554800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:10550000-10555000	Weak transcription	A549	lung
24	chr1:10550200-10554800	Weak transcription	Fetal Lung	lung
25	chr1:10550200-10555000	Weak transcription	Small Intestine	intestine
26	chr1:10550400-10554800	Weak transcription	Fetal Brain Female	brain
27	chr1:10550400-10554800	Weak transcription	Spleen	Spleen
28	chr1:10550400-10555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:10550400-10555000	Weak transcription	Gastric	stomach
30	chr1:10550400-10556000	Weak transcription	Lung	lung
31	chr1:10550600-10554800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:10550600-10554800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:10550600-10555000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:10550600-10555000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:10550600-10555000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:10550600-10555000	Weak transcription	Right Ventricle	heart
37	chr1:10550800-10554800	Weak transcription	Primary T cells from cord blood	blood
38	chr1:10550800-10554800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:10550800-10555000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:10551000-10554800	Weak transcription	Placenta	Placenta
41	chr1:10551600-10555000	Weak transcription	Fetal Stomach	stomach
42	chr1:10552200-10554800	Weak transcription	NHLF	lung
43	chr1:10553000-10555000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:10553000-10567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:10553600-10555800	Enhancers	Liver	Liver
46	chr1:10553800-10554800	Enhancers	Adipose Nuclei	Adipose
47	chr1:10554000-10554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:10554000-10554800	Enhancers	Fetal Muscle Leg	muscle
49	chr1:10554000-10554800	Enhancers	Stomach Smooth Muscle	stomach
50	chr1:10554000-10557000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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