Variant report

Variant	rs11575823
Chromosome Location	chr3:46422487-46422488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46414355..46417313-chr3:46422093..46423831,2	K562	blood:
2	chr3:46420928..46423796-chr3:46462092..46464094,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10490771	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574438	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574444	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1607738	0.85[AMR][1000 genomes]
rs17078932	0.85[AMR][1000 genomes]
rs17078949	0.85[AMR][1000 genomes]
rs17141109	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17141112	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584272	0.85[AMR][1000 genomes]
rs34158148	0.94[AFR][1000 genomes]
rs3918378	1.00[AMR][1000 genomes]
rs3918383	1.00[AMR][1000 genomes]
rs3918386	1.00[AMR][1000 genomes]
rs41469351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41475349	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41499550	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463007	0.87[AMR][1000 genomes]
rs57571354	0.85[AMR][1000 genomes]
rs58970771	0.85[AMR][1000 genomes]
rs59568150	0.85[AMR][1000 genomes]
rs60700685	0.85[AMR][1000 genomes]
rs61151866	0.85[AMR][1000 genomes]
rs61389423	0.85[AMR][1000 genomes]
rs61550542	0.85[AMR][1000 genomes]
rs61740461	0.85[AMR][1000 genomes]
rs72900271	0.85[AMR][1000 genomes]
rs72900273	0.85[AMR][1000 genomes]
rs72900285	0.85[AMR][1000 genomes]
rs72900298	0.85[AMR][1000 genomes]
rs72902113	0.85[AMR][1000 genomes]
rs72902116	0.85[AMR][1000 genomes]
rs72902152	0.85[AMR][1000 genomes]
rs72904172	0.85[AMR][1000 genomes]
rs72906018	0.85[AMR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription 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	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
2	chr3:46420000-46423000	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:46420400-46425400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:46420400-46427600	Weak transcription	Pancreas	Pancrea
5	chr3:46421000-46423000	Enhancers	Primary B cells from cord blood	blood
6	chr3:46421400-46422800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:46421400-46422800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:46421400-46422800	Enhancers	Fetal Thymus	thymus
9	chr3:46421400-46423000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:46421400-46423400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:46421400-46426000	Enhancers	Fetal Lung	lung
12	chr3:46421600-46422600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:46421600-46423000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:46421600-46423000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:46421600-46423000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:46421600-46423000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:46421600-46423000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:46421600-46423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:46421600-46423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:46421600-46423000	Enhancers	Brain Anterior Caudate	brain
21	chr3:46421600-46424000	Enhancers	Fetal Brain Male	brain
22	chr3:46421800-46422600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:46421800-46423000	Enhancers	Primary T cells from cord blood	blood
24	chr3:46421800-46423000	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:46421800-46425000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:46422000-46422600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:46422000-46422600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:46422000-46422600	Enhancers	Placenta	Placenta
29	chr3:46422000-46422600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr3:46422000-46422800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:46422000-46422800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:46422000-46422800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:46422000-46422800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:46422000-46422800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:46422000-46422800	Enhancers	HMEC	breast
36	chr3:46422000-46423000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:46422000-46423000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr3:46422000-46423000	Enhancers	Liver	Liver
39	chr3:46422000-46423000	Enhancers	Brain Hippocampus Middle	brain
40	chr3:46422000-46423000	Enhancers	Colon Smooth Muscle	Colon
41	chr3:46422000-46423000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr3:46422000-46423000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr3:46422000-46423400	Enhancers	Small Intestine	intestine
44	chr3:46422000-46423600	Enhancers	Adipose Nuclei	Adipose
45	chr3:46422000-46423800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:46422000-46424000	Enhancers	Ovary	ovary
47	chr3:46422000-46425200	Enhancers	Colonic Mucosa	Colon
48	chr3:46422200-46422600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:46422200-46422600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:46422200-46422600	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links