Variant report

Variant	rs785505
Chromosome Location	chr1:46595615-46595616
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr1:46595608-46596252	K562	blood:	n/a	n/a
2	REST	chr1:46594809-46600272	H1-neurons	neurons:	n/a	chr1:46594846-46594866 chr1:46599316-46599334 chr1:46598398-46598411 chr1:46594846-46594866 chr1:46599370-46599390

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46567302..46569021-chr1:46595587..46598185,2	K562	blood:
2	chr1:46515855..46517550-chr1:46595365..46597386,2	K562	blood:
3	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:
4	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
5	chr1:46595485..46597623-chr1:46768046..46769860,2	MCF-7	breast:
6	chr1:45184920..45187380-chr1:46595320..46596942,2	K562	blood:
7	chr1:46590920..46606215-chr1:46630948..46642525,66	MCF-7	breast:
8	chr1:46515960..46517550-chr1:46595365..46597989,2	K562	blood:
9	chr1:46539301..46542109-chr1:46593779..46595695,2	K562	blood:
10	chr1:46595304..46602065-chr1:46660247..46665309,8	MCF-7	breast:
11	chr1:46565920..46568802-chr1:46595587..46598094,2	K562	blood:
12	chr1:46500927..46503041-chr1:46594569..46596961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227857	TF binding region
ENSG00000085998	Chromatin interaction
ENSG00000250719	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000173660	Chromatin interaction
ENSG00000117472	Chromatin interaction
ENSG00000132128	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41286710	0.89[EUR][1000 genomes]
rs785474	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
6	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
7	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv2754420	chr1:46461580-46635180	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1012418	chr1:46544842-46619890	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv534948	chr1:46544842-46619890	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46541200-46595800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:46562400-46595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:46593200-46595800	Weak transcription	Ovary	ovary
4	chr1:46593400-46598200	Active TSS	Right Atrium	heart
5	chr1:46594000-46599000	Active TSS	Right Ventricle	heart
6	chr1:46594000-46599200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:46594000-46599200	Active TSS	Psoas Muscle	Psoas
8	chr1:46594000-46599400	Active TSS	Left Ventricle	heart
9	chr1:46594200-46595800	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:46594600-46596000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:46594600-46596600	Weak transcription	Placenta	Placenta
12	chr1:46594600-46596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:46594600-46599200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:46594600-46599400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:46594800-46596200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:46594800-46599200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:46594800-46599400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:46595000-46595800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:46595000-46599200	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr1:46595200-46595800	Enhancers	HSMM	muscle
21	chr1:46595200-46596000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:46595200-46596000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr1:46595200-46596000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr1:46595200-46596200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:46595200-46596400	Flanking Active TSS	HUVEC	blood vessel
26	chr1:46595200-46596600	Enhancers	Primary T cells from cord blood	blood
27	chr1:46595200-46596600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:46595200-46596600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
29	chr1:46595200-46596800	Flanking Active TSS	Dnd41	blood
30	chr1:46595200-46599200	Active TSS	Colon Smooth Muscle	Colon
31	chr1:46595200-46599200	Active TSS	Stomach Smooth Muscle	stomach
32	chr1:46595200-46599400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:46595200-46599400	Active TSS	Fetal Heart	heart
34	chr1:46595200-46599400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:46595200-46599600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:46595400-46595800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:46595400-46595800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:46595400-46595800	Active TSS	Fetal Intestine Large	intestine
39	chr1:46595400-46595800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:46595400-46595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:46595400-46596000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:46595400-46596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:46595400-46596000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:46595400-46596400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:46595400-46597000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:46595400-46597600	Active TSS	Brain Germinal Matrix	brain
47	chr1:46595400-46597600	Bivalent/Poised TSS	NHDF-Ad	bronchial
48	chr1:46595400-46599000	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:46595400-46599000	Active TSS	HMEC	breast
50	chr1:46595400-46599000	Active TSS	K562	blood

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