Variant report

Variant	rs4576967
Chromosome Location	chr13:49774329-49774330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7992530	1.00[AFR][1000 genomes]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS 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	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
3	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
4	chr13:49738400-49785200	Strong transcription	Liver	Liver
5	chr13:49738600-49785000	Strong transcription	Dnd41	blood
6	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
10	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr13:49748800-49790600	Weak transcription	K562	blood
15	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
16	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:49756800-49782800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr13:49757200-49774400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr13:49757800-49774600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:49759000-49776200	Weak transcription	Fetal Heart	heart
22	chr13:49759400-49785000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:49759600-49774600	Strong transcription	Adipose Nuclei	Adipose
24	chr13:49759600-49783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:49759800-49783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:49759800-49783200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:49760000-49783400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:49760000-49785000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:49762800-49789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:49763000-49788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr13:49763400-49789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr13:49764000-49782600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:49764400-49783400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr13:49765600-49793800	Weak transcription	A549	lung
35	chr13:49767600-49782200	Weak transcription	Fetal Brain Male	brain
36	chr13:49768600-49786600	Strong transcription	HSMM	muscle
37	chr13:49769000-49781800	Strong transcription	GM12878-XiMat	blood
38	chr13:49769800-49782800	Strong transcription	Fetal Intestine Large	intestine
39	chr13:49769800-49783000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:49769800-49785400	Strong transcription	Fetal Thymus	thymus
41	chr13:49770000-49783600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:49770000-49784800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:49770400-49775200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:49770600-49774400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr13:49770600-49785000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:49770800-49774400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:49770800-49783800	Strong transcription	HUVEC	blood vessel
48	chr13:49771000-49774600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:49771000-49774600	Strong transcription	NHDF-Ad	bronchial
50	chr13:49771000-49774600	Strong transcription	Osteobl	bone

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