Variant report

Variant	rs569150848
Chromosome Location	chr4:99299110-99299111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr4:99299018-99299126	GM12878	blood:	n/a	n/a
2	MAFK	chr4:99298806-99299158	IMR90	lung:	n/a	chr4:99298958-99298969 chr4:99298957-99298971 chr4:99298845-99298854

Variant related genes	Relation type
RAP1GDS1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv999097	chr4:99271563-99304326	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1012360	chr4:99271563-99308481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1010207	chr4:99291295-99312807	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3420293	chr4:99298734-99299207	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
2	chr4:99262800-99333400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:99271600-99314800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:99285000-99337800	Weak transcription	HUVEC	blood vessel
6	chr4:99285200-99306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:99286400-99310200	Weak transcription	Small Intestine	intestine
8	chr4:99288400-99342400	Weak transcription	A549	lung
9	chr4:99288600-99313000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:99288800-99319800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:99288800-99329200	Weak transcription	Esophagus	oesophagus
12	chr4:99288800-99332000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:99288800-99333600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:99289000-99301000	Weak transcription	Liver	Liver
15	chr4:99289000-99313600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:99289000-99314600	Weak transcription	Lung	lung
17	chr4:99289000-99318400	Weak transcription	Ovary	ovary
18	chr4:99289000-99333000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:99289000-99333400	Weak transcription	Pancreas	Pancrea
20	chr4:99289000-99333600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:99289400-99316800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:99289400-99321000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:99290400-99308200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:99290400-99308600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:99290400-99308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:99290600-99312800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:99290600-99333600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:99290600-99337800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
30	chr4:99290800-99302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:99290800-99308400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:99290800-99313000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:99290800-99315200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:99290800-99316600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:99290800-99317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:99291200-99308600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:99291200-99317000	Weak transcription	Adipose Nuclei	Adipose
38	chr4:99291600-99314600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:99292200-99307600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:99292800-99308600	Weak transcription	Primary T cells from cord blood	blood
41	chr4:99292800-99313600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:99293000-99301200	Weak transcription	Fetal Thymus	thymus
43	chr4:99293400-99308200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:99294200-99317000	Weak transcription	Aorta	Aorta
45	chr4:99294800-99333400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:99295000-99315400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:99295400-99316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:99295600-99302600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:99296000-99333600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:99296200-99308200	Weak transcription	HMEC	breast

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