Variant report

Variant	rs2699815
Chromosome Location	chr7:26409959-26409960
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	SMC3	chr7:26408940-26410267	SK-N-SH	brain:	n/a	chr7:26409337-26409351
2	POLR2A	chr7:26409743-26410018	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:26409202-26410001	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr7:26408879-26410065	SK-N-SH	brain:	n/a	chr7:26409338-26409351 chr7:26409337-26409358 chr7:26409335-26409353
5	RAD21	chr7:26408054-26410042	SK-N-SH	brain:	n/a	chr7:26409336-26409355 chr7:26409341-26409353

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26238913..26240940-chr7:26408998..26410990,2	MCF-7	breast:
2	chr7:26329968..26332567-chr7:26407158..26410797,3	MCF-7	breast:

Variant related genes	Relation type
SNX10	TF binding region
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1919935	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250062	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698713	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698714	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2698715	0.85[EUR][1000 genomes]
rs2698719	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2699816	0.87[AMR][1000 genomes];0.94[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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26375000-26414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:26385600-26414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:26389000-26413200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:26398600-26415400	Weak transcription	HMEC	breast
5	chr7:26402600-26415200	Enhancers	Liver	Liver
6	chr7:26403800-26415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:26404800-26411200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:26404800-26414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:26404800-26415200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:26405200-26413800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:26405200-26414000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:26405400-26413800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:26405400-26414600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:26405800-26414600	Weak transcription	K562	blood
15	chr7:26407000-26411200	Weak transcription	Fetal Intestine Small	intestine
16	chr7:26407400-26411800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:26407400-26412000	Weak transcription	Placenta	Placenta
18	chr7:26407400-26415400	Weak transcription	HepG2	liver
19	chr7:26407400-26415600	Weak transcription	Spleen	Spleen
20	chr7:26407600-26413800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:26407600-26415400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:26409200-26410200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:26409200-26410200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:26409200-26410200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:26409200-26410200	Flanking Active TSS	Dnd41	blood
26	chr7:26409200-26410400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:26409400-26410000	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr7:26409400-26410000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:26409400-26410000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:26409400-26410000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:26409400-26410000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:26409400-26410200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr7:26409400-26410200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:26409400-26410200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:26409400-26410200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:26409400-26410200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:26409400-26410200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:26409400-26410200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:26409400-26410200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:26409400-26410200	Enhancers	Fetal Intestine Large	intestine
41	chr7:26409400-26410200	Flanking Active TSS	HUVEC	blood vessel
42	chr7:26409400-26410400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:26409600-26410200	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:26409600-26410800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:26409600-26413800	Weak transcription	Fetal Brain Male	brain
46	chr7:26409800-26410000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:26409800-26410000	Flanking Active TSS	Fetal Kidney	kidney
48	chr7:26409800-26410000	Flanking Active TSS	Fetal Thymus	thymus
49	chr7:26409800-26410200	Enhancers	Adipose Nuclei	Adipose
50	chr7:26409800-26410200	Genic enhancers	Monocytes-CD14+_RO01746	blood

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