Variant report

Variant	rs72859595
Chromosome Location	chr1:10119779-10119780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10119710-10119791	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:10119746-10120388	K562	blood:	n/a	n/a
3	POLR2A	chr1:10119706-10119865	K562	blood:	n/a	n/a
4	POLR2A	chr1:10119615-10120489	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10116219..10117881-chr1:10119207..10121095,2	K562	blood:
2	chr1:10003032..10004962-chr1:10118663..10120416,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224340	TF binding region
ENSG00000162441	Chromatin interaction
ENSG00000173614	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57906726	0.84[AFR][1000 genomes]
rs59870161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72859548	1.00[AMR][1000 genomes]
rs72859554	1.00[AMR][1000 genomes]
rs72859555	1.00[AMR][1000 genomes]
rs72859562	1.00[AMR][1000 genomes]
rs72859572	0.84[AFR][1000 genomes]
rs72859586	1.00[AFR][1000 genomes]
rs72859599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72859602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861424	1.00[AFR][1000 genomes]
rs72861427	0.92[AFR][1000 genomes]
rs72861436	0.92[AFR][1000 genomes]
rs72861437	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
6	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10107000-10125200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:10107000-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:10107000-10125400	Weak transcription	Small Intestine	intestine
12	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:10107200-10124000	Weak transcription	Fetal Brain Female	brain
14	chr1:10107200-10125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:10107200-10125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:10107400-10124000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:10107400-10124200	Strong transcription	Fetal Intestine Small	intestine
18	chr1:10107400-10125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:10107400-10125400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:10107600-10125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:10109000-10126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:10111400-10125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:10111400-10127000	Weak transcription	Fetal Lung	lung
27	chr1:10113000-10124000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:10113000-10132000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:10113600-10120400	Enhancers	Brain Substantia Nigra	brain
30	chr1:10114200-10120800	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:10114400-10120200	Enhancers	Brain Angular Gyrus	brain
32	chr1:10114400-10121000	Enhancers	Brain Hippocampus Middle	brain
33	chr1:10114800-10125200	Weak transcription	Brain Germinal Matrix	brain
34	chr1:10115800-10120200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:10116200-10124200	Weak transcription	HUVEC	blood vessel
36	chr1:10116600-10120200	Enhancers	Right Ventricle	heart
37	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
38	chr1:10117400-10119800	Enhancers	Psoas Muscle	Psoas
39	chr1:10117400-10120000	Strong transcription	Fetal Intestine Large	intestine
40	chr1:10117400-10120200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:10117400-10120400	Strong transcription	Dnd41	blood
42	chr1:10117600-10119800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:10117600-10119800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:10117600-10119800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:10117600-10120000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:10117600-10121800	Enhancers	Placenta	Placenta
47	chr1:10117600-10122000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:10117800-10119800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:10117800-10119800	Strong transcription	Thymus	Thymus
50	chr1:10117800-10119800	Strong transcription	HepG2	liver

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