Variant report

Variant	rs526009
Chromosome Location	chr4:99208152-99208153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1214993	0.87[GIH][hapmap]
rs433146	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[ASN][1000 genomes]
rs574880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs603215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686496	1.00[AFR][1000 genomes]
rs72688425	1.00[AFR][1000 genomes]
rs783946	0.87[GIH][hapmap]
rs783948	1.00[AFR][1000 genomes]

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	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS 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	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv2762452	chr4:99208152-99212711	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184000-99210400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:99184200-99210000	Weak transcription	HSMMtube	muscle
4	chr4:99184200-99242200	Weak transcription	A549	lung
5	chr4:99184600-99211800	Weak transcription	NHLF	lung
6	chr4:99185400-99239400	Weak transcription	NHEK	skin
7	chr4:99186600-99210000	Weak transcription	K562	blood
8	chr4:99194000-99215400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:99194600-99214600	Weak transcription	Liver	Liver
10	chr4:99196600-99214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:99197000-99214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:99197400-99210000	Weak transcription	Fetal Thymus	thymus
13	chr4:99197600-99210000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:99197600-99210000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:99198400-99210000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:99204000-99210000	Enhancers	Dnd41	blood
17	chr4:99204800-99210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:99204800-99210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:99204800-99210200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:99205000-99211000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:99205000-99215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:99205200-99210000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:99205200-99210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:99205200-99210400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:99205400-99210000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:99206000-99210400	Weak transcription	Brain Substantia Nigra	brain
28	chr4:99206000-99210400	Weak transcription	Right Ventricle	heart
29	chr4:99206000-99218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:99206000-99234800	Weak transcription	Pancreas	Pancrea
31	chr4:99206200-99210000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:99206200-99210200	Weak transcription	Brain Anterior Caudate	brain
33	chr4:99206200-99210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:99206200-99210800	Weak transcription	Osteobl	bone
35	chr4:99206200-99211000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:99206200-99211200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:99206200-99211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:99206200-99211400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:99206200-99211800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:99206200-99212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:99206200-99214800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:99206200-99214800	Weak transcription	Left Ventricle	heart
43	chr4:99206200-99214800	Weak transcription	Spleen	Spleen
44	chr4:99206200-99214800	Weak transcription	HSMM	muscle
45	chr4:99206200-99215800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:99206200-99215800	Weak transcription	HMEC	breast
47	chr4:99206200-99218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:99206200-99218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:99206200-99229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:99206200-99232800	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links