Variant report

Variant	rs12085505
Chromosome Location	chr1:224567435-224567436
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224544249..224546691-chr1:224567251..224568815,2	K562	blood:
2	chr1:224565954..224567779-chr1:224572206..224574847,2	K562	blood:
3	chr1:224550099..224552705-chr1:224565403..224568845,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11579342	1.00[AMR][1000 genomes]
rs72755974	1.00[AMR][1000 genomes]
rs72758316	0.89[AFR][1000 genomes]

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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS 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	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
3	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224547800-224568600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:224548000-224576000	Weak transcription	Fetal Brain Male	brain
6	chr1:224550400-224568000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:224551000-224568000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:224551400-224568600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:224551600-224568000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:224551600-224568400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:224553800-224568800	Strong transcription	Fetal Stomach	stomach
12	chr1:224554400-224568200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:224554800-224568600	Strong transcription	Fetal Brain Female	brain
14	chr1:224555000-224568000	Strong transcription	Brain Anterior Caudate	brain
15	chr1:224555000-224568200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr1:224555200-224568000	Strong transcription	Brain Germinal Matrix	brain
17	chr1:224555800-224581400	Weak transcription	Fetal Heart	heart
18	chr1:224556000-224591000	Weak transcription	Small Intestine	intestine
19	chr1:224560600-224567800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:224562800-224569600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:224563000-224577200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:224563000-224593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:224563200-224568600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:224563600-224568000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:224563600-224568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:224563600-224568600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:224563600-224571200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:224564400-224567800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:224564600-224576600	Weak transcription	Ovary	ovary
30	chr1:224565000-224567600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:224565000-224567600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:224565000-224575000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:224565000-224575800	Weak transcription	Brain Angular Gyrus	brain
34	chr1:224565000-224576800	Weak transcription	NHEK	skin
35	chr1:224565000-224577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:224565000-224577200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:224565000-224577200	Weak transcription	Colonic Mucosa	Colon
38	chr1:224565000-224577200	Weak transcription	Pancreas	Pancrea
39	chr1:224565000-224577200	Weak transcription	Spleen	Spleen
40	chr1:224565000-224581200	Weak transcription	Right Ventricle	heart
41	chr1:224565000-224582600	Weak transcription	Esophagus	oesophagus
42	chr1:224565000-224586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:224565200-224572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:224565200-224572400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:224565200-224574600	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:224565200-224576000	Weak transcription	Hela-S3	cervix
47	chr1:224565400-224577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:224565600-224568000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:224565600-224568600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:224565600-224569000	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links