Variant report

Variant	rs7668981
Chromosome Location	chr4:99439788-99439789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10004753	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs10005781	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs13116201	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs13137132	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs13435698	0.82[EUR][1000 genomes]
rs17027628	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs17191936	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17192060	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2091547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866018	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs4282188	0.81[AFR][1000 genomes]
rs4399995	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4535338	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs6812597	0.88[ASN][1000 genomes]
rs6844261	0.81[JPT][hapmap]
rs7695093	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
2	chr4:99433000-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:99434000-99441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:99434200-99440000	Enhancers	NHEK	skin
5	chr4:99434400-99443800	Weak transcription	Aorta	Aorta
6	chr4:99435600-99440800	Enhancers	Brain Hippocampus Middle	brain
7	chr4:99435600-99441800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99436200-99440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:99436200-99441800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99436200-99441800	Enhancers	NHDF-Ad	bronchial
11	chr4:99436400-99440400	Enhancers	HUVEC	blood vessel
12	chr4:99436400-99440800	Enhancers	Fetal Stomach	stomach
13	chr4:99436600-99439800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:99436600-99439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:99436600-99439800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:99436600-99439800	Weak transcription	Fetal Thymus	thymus
17	chr4:99436600-99441400	Enhancers	NHLF	lung
18	chr4:99436600-99443600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:99436600-99446400	Weak transcription	Left Ventricle	heart
20	chr4:99436800-99439800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:99436800-99439800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:99436800-99439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:99437000-99439800	Weak transcription	Spleen	Spleen
24	chr4:99437000-99441400	Enhancers	Brain Cingulate Gyrus	brain
25	chr4:99437200-99439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:99437200-99440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:99437200-99440800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:99437200-99443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:99437400-99439800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:99437400-99440000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:99437600-99439800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:99437600-99440000	Enhancers	A549	lung
33	chr4:99438000-99439800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:99438000-99441800	Enhancers	Osteobl	bone
35	chr4:99438000-99442600	Weak transcription	Dnd41	blood
36	chr4:99438200-99439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:99438400-99439800	Enhancers	Brain Germinal Matrix	brain
38	chr4:99438400-99441200	Enhancers	Brain Anterior Caudate	brain
39	chr4:99438400-99443200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:99438600-99439800	Enhancers	Right Atrium	heart
41	chr4:99438600-99440200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:99438600-99440200	Weak transcription	Thymus	Thymus
43	chr4:99438600-99440400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:99438600-99440400	Enhancers	Brain Substantia Nigra	brain
45	chr4:99438600-99441400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr4:99438600-99441600	Enhancers	Brain Angular Gyrus	brain
47	chr4:99438800-99439800	Enhancers	Fetal Brain Female	brain
48	chr4:99438800-99440000	Weak transcription	HSMM	muscle
49	chr4:99438800-99441000	Weak transcription	Right Ventricle	heart
50	chr4:99438800-99443400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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