Variant report

Variant	rs10271695
Chromosome Location	chr7:99003888-99003889
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	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	chr7:99003742-99007162	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr7:99003886-99008004	SK-N-SH	brain:	n/a	chr7:99006650-99006665 chr7:99006652-99006667

No.	Distal block	Cell Line	Cell type
1	chr7:98959323..98961085-chr7:99003271..99005173,2	K562	blood:
2	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
3	chr7:98963718..98966584-chr7:99003795..99005637,2	MCF-7	breast:
4	chr7:98988826..98993566-chr7:99002963..99006762,7	MCF-7	breast:
5	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
6	chr7:98861668..98864470-chr7:99003441..99006106,2	K562	blood:

Variant related genes	Relation type
PDAP1	TF binding region
BUD31	TF binding region
ENSG00000002079	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10085823	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10239443	0.86[EUR][1000 genomes]
rs10242241	0.84[AMR][1000 genomes]
rs10249659	1.00[EUR][1000 genomes]
rs10264303	1.00[EUR][1000 genomes]
rs10277362	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12386578	1.00[EUR][1000 genomes]
rs13438585	1.00[EUR][1000 genomes]
rs28378107	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28497153	1.00[EUR][1000 genomes]
rs28564953	0.86[EUR][1000 genomes]
rs3197990	1.00[EUR][1000 genomes]
rs45529834	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45558438	1.00[EUR][1000 genomes]
rs45599236	1.00[EUR][1000 genomes]
rs45610838	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60996680	1.00[EUR][1000 genomes]
rs61435529	0.86[EUR][1000 genomes]
rs940334	1.00[EUR][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	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	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98987000-99004200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:98991400-99004200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:98991600-99005200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:98992000-99004000	Strong transcription	Fetal Stomach	stomach
5	chr7:98992400-99004000	Strong transcription	Hela-S3	cervix
6	chr7:98998600-99004200	Weak transcription	Psoas Muscle	Psoas
7	chr7:98999000-99004000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:98999000-99004200	Weak transcription	Fetal Heart	heart
9	chr7:99000600-99004200	Genic enhancers	Dnd41	blood
10	chr7:99001000-99004600	Weak transcription	Fetal Kidney	kidney
11	chr7:99001000-99005200	Weak transcription	Fetal Brain Male	brain
12	chr7:99001400-99004000	Weak transcription	HSMMtube	muscle
13	chr7:99001600-99004200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:99001800-99004600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:99002000-99004400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:99002000-99004400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:99002200-99004200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:99002400-99004000	Weak transcription	HUVEC	blood vessel
19	chr7:99002400-99004200	Weak transcription	Primary B cells from cord blood	blood
20	chr7:99002400-99004200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:99002400-99004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:99002400-99004800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:99002400-99005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:99002600-99004000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:99002600-99004200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:99002600-99004200	Weak transcription	Aorta	Aorta
27	chr7:99002800-99004000	Weak transcription	Fetal Lung	lung
28	chr7:99002800-99004200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:99002800-99004200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:99002800-99004200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:99002800-99004200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:99002800-99004200	Weak transcription	Brain Anterior Caudate	brain
33	chr7:99002800-99004200	Weak transcription	Colonic Mucosa	Colon
34	chr7:99002800-99004200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:99002800-99004200	Weak transcription	Placenta	Placenta
36	chr7:99002800-99004200	Weak transcription	Lung	lung
37	chr7:99002800-99004200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:99002800-99004200	Weak transcription	Thymus	Thymus
39	chr7:99002800-99004600	Enhancers	Colon Smooth Muscle	Colon
40	chr7:99002800-99005000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:99002800-99005000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr7:99002800-99005000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:99002800-99005000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:99002800-99005200	Weak transcription	Esophagus	oesophagus
45	chr7:99003000-99004000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:99003000-99004000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:99003000-99004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:99003000-99004000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:99003000-99004000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:99003000-99004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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