Variant report

Variant	rs4699642
Chromosome Location	chr4:99446162-99446163
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	chr4:99445632..99448103-chr4:99449993..99451915,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10004753	0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10005781	0.81[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10516433	0.88[YRI][hapmap]
rs10516434	0.92[YRI][hapmap]
rs13116201	0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13435698	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17564872	0.88[YRI][hapmap]
rs34951629	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532740	0.93[YRI][hapmap]
rs6840610	0.88[YRI][hapmap]
rs6853079	0.94[YRI][hapmap]
rs7689289	0.94[YRI][hapmap]

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	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	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
3	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99436600-99446400	Weak transcription	Left Ventricle	heart
2	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
3	chr4:99440400-99458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:99441200-99446400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:99441800-99446400	Weak transcription	Spleen	Spleen
6	chr4:99442200-99450600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:99442400-99446600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:99442400-99446800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:99442600-99446600	Enhancers	Brain Hippocampus Middle	brain
10	chr4:99442600-99446800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:99442600-99447400	Enhancers	Brain Anterior Caudate	brain
12	chr4:99443000-99446800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:99444400-99446600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:99444400-99446600	Enhancers	HUVEC	blood vessel
15	chr4:99444400-99446600	Enhancers	Osteobl	bone
16	chr4:99444400-99448800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:99444600-99446600	Enhancers	NH-A	brain
18	chr4:99444600-99446800	Enhancers	NHDF-Ad	bronchial
19	chr4:99444600-99447200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:99444600-99450200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:99444800-99446800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:99444800-99447200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:99444800-99448600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:99445000-99446400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:99445200-99446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:99445200-99451800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:99445200-99461800	Weak transcription	HMEC	breast
28	chr4:99445400-99446400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:99445400-99448800	Weak transcription	HSMM	muscle
30	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:99445600-99447800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:99445600-99448000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:99445600-99449800	Weak transcription	NHLF	lung
34	chr4:99445600-99450000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:99445600-99450200	Weak transcription	Gastric	stomach
36	chr4:99445800-99446200	Weak transcription	Fetal Brain Male	brain
37	chr4:99445800-99446200	Weak transcription	Ovary	ovary
38	chr4:99445800-99447400	Weak transcription	Fetal Brain Female	brain
39	chr4:99445800-99447800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:99445800-99448800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:99445800-99450000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:99446000-99446400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:99446000-99447200	Weak transcription	Brain Angular Gyrus	brain
44	chr4:99446000-99447200	Weak transcription	Brain Germinal Matrix	brain
45	chr4:99446000-99448200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:99446000-99449000	Weak transcription	NHEK	skin
47	chr4:99446000-99449800	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach

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