Variant report

Variant	rs10244158
Chromosome Location	chr7:99080244-99080245
allele	A/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	chr7:99079695-99080595	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:99079675-99080334	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:99080240-99080268	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99078176..99080245-chr7:99100988..99102755,2	K562	blood:
2	chr7:99070549..99074806-chr7:99079713..99086160,8	K562	blood:
3	chr7:99078176..99080245-chr7:99100988..99102755,3	K562	blood:
4	chr7:99036051..99038082-chr7:99079952..99081854,3	K562	blood:

Variant related genes	Relation type
ZNF789	TF binding region
ENSG00000198556	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000160917	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1011024	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10155966	0.80[AMR][1000 genomes]
rs10238965	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10243678	0.80[AMR][1000 genomes]
rs10253937	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10254729	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10270459	0.80[AMR][1000 genomes]
rs10271049	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10271582	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1043466	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10464604	0.82[ASN][1000 genomes]
rs11539770	0.82[ASN][1000 genomes]
rs11976018	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538826	0.83[ASN][1000 genomes]
rs13227795	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13240600	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13437771	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980307	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072181	0.80[AMR][1000 genomes]
rs2240384	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240385	0.82[ASN][1000 genomes]
rs2272168	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280601	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2404324	0.93[EUR][1000 genomes]
rs28457808	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28495024	0.81[AMR][1000 genomes]
rs3137	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34777615	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3779354	0.97[ASN][1000 genomes]
rs3843540	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3901286	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45492098	0.81[ASN][1000 genomes]
rs45540134	0.87[ASN][1000 genomes]
rs45622743	0.84[ASN][1000 genomes]
rs58222677	0.84[ASN][1000 genomes]
rs61159815	0.86[ASN][1000 genomes]
rs61402640	0.81[ASN][1000 genomes]
rs61543997	0.81[ASN][1000 genomes]
rs6962772	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794682	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7794705	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7804551	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs883403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs917154	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs940336	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3435734	chr7:99079779-99081407	Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99071200-99091000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:99071200-99091600	Weak transcription	Small Intestine	intestine
3	chr7:99071400-99081600	Weak transcription	Right Ventricle	heart
4	chr7:99071400-99090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:99071400-99090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:99071400-99090600	Weak transcription	Right Atrium	heart
7	chr7:99071400-99096200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:99071600-99090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:99071600-99091200	Weak transcription	Fetal Heart	heart
10	chr7:99071800-99081800	Weak transcription	Pancreas	Pancrea
11	chr7:99071800-99084400	Weak transcription	Fetal Brain Male	brain
12	chr7:99071800-99088600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:99071800-99090400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:99071800-99090400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:99071800-99090400	Weak transcription	Psoas Muscle	Psoas
16	chr7:99071800-99090600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:99071800-99091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:99072000-99086400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:99072400-99083600	Weak transcription	Stomach Mucosa	stomach
20	chr7:99072600-99091200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:99073200-99082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:99073600-99080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:99073600-99084400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:99073800-99081600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:99073800-99083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:99073800-99085000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:99074000-99083600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:99074000-99084600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:99074000-99090400	Weak transcription	Colonic Mucosa	Colon
30	chr7:99074200-99080800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:99074600-99083200	Strong transcription	Dnd41	blood
32	chr7:99075400-99083200	Strong transcription	Fetal Brain Female	brain
33	chr7:99075600-99080600	Strong transcription	Liver	Liver
34	chr7:99076000-99084400	Weak transcription	Fetal Kidney	kidney
35	chr7:99076400-99081600	Weak transcription	Aorta	Aorta
36	chr7:99076600-99081600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:99076600-99085400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:99076600-99090400	Weak transcription	Lung	lung
39	chr7:99076800-99080600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:99076800-99081800	Weak transcription	Gastric	stomach
41	chr7:99076800-99083000	Strong transcription	K562	blood
42	chr7:99076800-99083400	Strong transcription	Fetal Stomach	stomach
43	chr7:99076800-99085200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:99076800-99089800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:99076800-99090000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:99076800-99090400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:99077000-99080400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr7:99077000-99081600	Weak transcription	Adipose Nuclei	Adipose
49	chr7:99077000-99084000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:99077000-99085200	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links