Variant report

Variant	rs554004647
Chromosome Location	chr1:77774356-77774357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77766400..77769347-chr1:77774174..77776470,2	K562	blood:
2	chr1:77773875..77776592-chr1:77778401..77780393,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3452343	chr1:77774348-77781734	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3452344	chr1:77774348-77781734	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77754400-77785800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:77755200-77781600	Weak transcription	Osteobl	bone
6	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
7	chr1:77756800-77781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:77757600-77777400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:77758000-77778400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:77759000-77781600	Weak transcription	NHLF	lung
11	chr1:77767600-77774400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:77767600-77776600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:77771800-77780200	Strong transcription	NHDF-Ad	bronchial
14	chr1:77772200-77774800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:77772400-77774600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:77772400-77774800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:77772400-77775000	Enhancers	Primary T cells from cord blood	blood
18	chr1:77772400-77776000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:77772600-77776200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:77772800-77777800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:77773400-77774600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:77773400-77774600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:77773400-77776000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:77773600-77774600	Strong transcription	HSMM	muscle
25	chr1:77773800-77775200	Enhancers	K562	blood
26	chr1:77773800-77777000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:77774000-77774800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:77774000-77790400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:77774200-77774800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:77774200-77774800	Enhancers	Brain Hippocampus Middle	brain
31	chr1:77774200-77775000	Enhancers	Fetal Thymus	thymus
32	chr1:77774200-77775600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:77774200-77776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:77774200-77776000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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