Variant report

Variant	rs28730571
Chromosome Location	chr4:100007920-100007921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:100007825-100007922	GM13976	blood:	n/a	n/a
2	POLR2A	chr4:100007612-100008015	HepG2	liver:	n/a	n/a
3	TBP	chr4:100007635-100007989	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99951373..99953005-chr4:100007401..100010388,2	MCF-7	breast:
2	chr4:100007607..100009144-chr4:100870095..100871989,2	K562	blood:
3	chr4:99849612..99852371-chr4:100007085..100010224,5	K562	blood:
4	chr4:99848192..99852255-chr4:100007586..100012546,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246090	TF binding region
ADH5	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17028473	1.00[AMR][1000 genomes]
rs17028505	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028834	1.00[AMR][1000 genomes]
rs28364319	1.00[AMR][1000 genomes]
rs28730610	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29001339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29001631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55820222	1.00[AMR][1000 genomes]
rs59728850	1.00[AMR][1000 genomes]
rs6532799	1.00[AMR][1000 genomes]
rs6828819	1.00[AMR][1000 genomes]
rs6831854	1.00[AMR][1000 genomes]
rs6835771	1.00[AMR][1000 genomes]
rs72897134	1.00[AMR][1000 genomes]
rs72901271	1.00[AMR][1000 genomes]
rs72901287	1.00[AMR][1000 genomes]
rs72901294	1.00[AMR][1000 genomes]
rs72901295	1.00[AMR][1000 genomes]
rs7664906	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7669447	1.00[AMR][1000 genomes]
rs7684674	1.00[AMR][1000 genomes]
rs7689911	1.00[AMR][1000 genomes]

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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1849572	chr4:100007243-100024396	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
2	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:99987200-100008000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99998000-100008800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:100001600-100008600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:100001800-100008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:100002400-100008800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:100003000-100008200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:100004000-100008600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:100004400-100008000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:100004800-100008800	Enhancers	Fetal Heart	heart
13	chr4:100005400-100008000	Genic enhancers	Dnd41	blood
14	chr4:100005600-100008800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:100005600-100009000	Weak transcription	Esophagus	oesophagus
16	chr4:100005600-100009200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:100005600-100009400	Weak transcription	Spleen	Spleen
18	chr4:100006200-100008800	Weak transcription	Brain Anterior Caudate	brain
19	chr4:100006200-100008800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:100006200-100009000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:100006200-100009000	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:100006200-100009200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:100006400-100008600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:100006600-100008200	Weak transcription	HSMM	muscle
25	chr4:100006600-100008400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:100006600-100008600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:100006600-100008800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:100006600-100011400	Active TSS	Colonic Mucosa	Colon
29	chr4:100006600-100012400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:100006800-100008000	Enhancers	Adipose Nuclei	Adipose
31	chr4:100006800-100008200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:100006800-100008200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:100006800-100008200	Enhancers	Pancreas	Pancrea
34	chr4:100006800-100008400	Weak transcription	GM12878-XiMat	blood
35	chr4:100006800-100008600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:100006800-100008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:100006800-100008600	Enhancers	Fetal Brain Male	brain
38	chr4:100006800-100008600	Enhancers	Small Intestine	intestine
39	chr4:100006800-100008800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:100006800-100008800	Weak transcription	Primary T cells from cord blood	blood
41	chr4:100006800-100008800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:100006800-100012400	Active TSS	NHLF	lung
43	chr4:100007000-100008000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:100007000-100008400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:100007000-100008400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:100007000-100008400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:100007000-100008400	Weak transcription	Primary B cells from cord blood	blood
48	chr4:100007000-100008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:100007000-100008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:100007000-100008600	Active TSS	Rectal Smooth Muscle	rectum

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