Variant report

Variant	rs10085772
Chromosome Location	chr7:99007852-99007853
allele	G/T
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	JUND	chr7:99003803-99007899	SK-N-SH	brain:	n/a	chr7:99007393-99007402 chr7:99005830-99005840 chr7:99007390-99007399 chr7:99005830-99005840 chr7:99005831-99005839 chr7:99005830-99005840 chr7:99005830-99005840 chr7:99007391-99007400
2	POLR2A	chr7:99007609-99007896	HepG2	liver:	n/a	n/a
3	JUN	chr7:99004899-99007989	K562	blood:	n/a	chr7:99007393-99007402 chr7:99005830-99005840 chr7:99007390-99007399 chr7:99005830-99005840 chr7:99005831-99005839 chr7:99005830-99005840 chr7:99006506-99006519 chr7:99005830-99005840 chr7:99007391-99007400
4	POLR2A	chr7:99007337-99008093	GM12878	blood:	n/a	n/a
5	MXI1	chr7:99003886-99008004	SK-N-SH	brain:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
6	JUN	chr7:99007793-99007905	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:99003980-99007925	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
2	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
3	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
4	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:
5	chr7:99005603..99007986-chr7:99155532..99158163,2	K562	blood:
6	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
7	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
8	chr7:99005495..99008019-chr7:99062000..99063927,3	MCF-7	breast:
9	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
10	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
11	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:

Variant related genes	Relation type
PDAP1	TF binding region
BUD31	TF binding region
ENSG00000160917	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000221909	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10236240	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10261635	0.82[EUR][1000 genomes]
rs10268984	0.82[AMR][1000 genomes]
rs10275381	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10277447	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10953288	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10953289	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11971640	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11974593	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11980995	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12531852	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2003498	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4765	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6960810	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs704798	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7778859	0.92[AMR][1000 genomes];0.93[EUR][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99004200-99008000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:99004600-99008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:99005000-99008000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:99005200-99008000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:99005200-99008000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:99006800-99008000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:99007000-99008000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:99007000-99008000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr7:99007000-99008000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:99007000-99008000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr7:99007000-99008000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:99007000-99008000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr7:99007200-99008000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:99007200-99008000	Flanking Active TSS	Osteobl	bone
15	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:99007400-99008000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:99007400-99008000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:99007400-99008000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:99007400-99008000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:99007400-99008000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:99007400-99008000	Transcr. at gene 5' and 3'	Fetal Brain Male	brain
22	chr7:99007400-99008000	Flanking Active TSS	Fetal Lung	lung
23	chr7:99007400-99008000	Weak transcription	Placenta	Placenta
24	chr7:99007400-99008000	Weak transcription	Left Ventricle	heart
25	chr7:99007400-99008000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr7:99007400-99008000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:99007400-99008000	Enhancers	Small Intestine	intestine
28	chr7:99007400-99008000	Enhancers	Stomach Mucosa	stomach
29	chr7:99007400-99008200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:99007400-99008400	Weak transcription	Pancreas	Pancrea
31	chr7:99007400-99010600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:99007600-99008000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:99007600-99008000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:99007600-99008000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:99007600-99008000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:99007600-99008000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:99007600-99008000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:99007600-99008000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:99007600-99008000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:99007600-99008000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:99007600-99008000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:99007600-99008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:99007600-99008000	Weak transcription	Aorta	Aorta
44	chr7:99007600-99008000	Flanking Active TSS	Fetal Brain Female	brain
45	chr7:99007600-99008000	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr7:99007600-99008000	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr7:99007600-99008000	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
48	chr7:99007600-99008000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:99007600-99008000	Genic enhancers	Fetal Stomach	stomach
50	chr7:99007600-99008000	Weak transcription	Gastric	stomach

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