Variant report

Variant	rs7676778
Chromosome Location	chr4:99432220-99432221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs34392334	1.00[AMR][1000 genomes]
rs58485619	1.00[AMR][1000 genomes]
rs58977062	1.00[AMR][1000 genomes]
rs60266816	1.00[AMR][1000 genomes]
rs72896309	1.00[AMR][1000 genomes]
rs72896311	1.00[AMR][1000 genomes]
rs72896316	1.00[AMR][1000 genomes]
rs72896319	1.00[AMR][1000 genomes]
rs72896324	1.00[AMR][1000 genomes]
rs72896325	1.00[AMR][1000 genomes]
rs72896335	1.00[AMR][1000 genomes]
rs72896338	1.00[AMR][1000 genomes]
rs72896342	1.00[AMR][1000 genomes]
rs72896346	1.00[AMR][1000 genomes]
rs72896356	1.00[AMR][1000 genomes]
rs72896358	1.00[AMR][1000 genomes]
rs72896365	1.00[AMR][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:99417800-99438600	Weak transcription	Right Atrium	heart
3	chr4:99419600-99436400	Weak transcription	HUVEC	blood vessel
4	chr4:99420200-99435800	Weak transcription	Spleen	Spleen
5	chr4:99420400-99436400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:99420400-99436400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99423000-99434200	Weak transcription	Aorta	Aorta
8	chr4:99423000-99434200	Weak transcription	Esophagus	oesophagus
9	chr4:99425000-99436200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99425600-99434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:99427800-99432800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:99429200-99432600	Enhancers	Ovary	ovary
13	chr4:99429800-99432400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:99429800-99432600	Enhancers	NH-A	brain
15	chr4:99430000-99432600	Enhancers	Brain Hippocampus Middle	brain
16	chr4:99430000-99432800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:99430000-99432800	Enhancers	Fetal Lung	lung
18	chr4:99430000-99432800	Enhancers	NHLF	lung
19	chr4:99430200-99432400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:99430200-99432600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:99430200-99432600	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:99430200-99432600	Enhancers	Brain Substantia Nigra	brain
23	chr4:99430200-99432800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:99430200-99432800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:99430200-99432800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:99430200-99432800	Enhancers	Osteobl	bone
27	chr4:99430400-99432600	Enhancers	Fetal Stomach	stomach
28	chr4:99430400-99432800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:99430800-99432400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:99430800-99432600	Enhancers	Thymus	Thymus
31	chr4:99430800-99432600	Enhancers	HMEC	breast
32	chr4:99430800-99432800	Enhancers	Dnd41	blood
33	chr4:99430800-99433000	Weak transcription	Fetal Kidney	kidney
34	chr4:99430800-99433800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:99431000-99432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:99431000-99432600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:99431000-99432800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:99431000-99432800	Enhancers	NHEK	skin
39	chr4:99431000-99433200	Enhancers	NHDF-Ad	bronchial
40	chr4:99431000-99435600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:99431200-99432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:99431200-99432600	Enhancers	Primary T cells from cord blood	blood
43	chr4:99431200-99433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:99431200-99434000	Weak transcription	Fetal Intestine Small	intestine
45	chr4:99431200-99436000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:99431200-99436000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:99431200-99436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:99431200-99439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
50	chr4:99431400-99432400	Enhancers	HSMMtube	muscle

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