Variant report

Variant	rs73285259
Chromosome Location	chr7:26388540-26388541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26382800..26384799-chr7:26387254..26389366,2	K562	blood:
2	chr7:26385066..26388736-chr7:26388870..26392528,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11977497	0.90[AFR][1000 genomes]
rs6946449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946704	0.93[AFR][1000 genomes]
rs73283333	1.00[AMR][1000 genomes]
rs73283335	1.00[AMR][1000 genomes]
rs73283394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283400	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285205	0.88[AFR][1000 genomes]
rs73285217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285219	0.90[AFR][1000 genomes]
rs73285228	0.90[AFR][1000 genomes]
rs7798754	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2761313	chr7:26340970-26389772	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26368800-26405000	Weak transcription	Placenta	Placenta
2	chr7:26372400-26405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:26375000-26414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:26382600-26392000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:26382600-26393400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:26382800-26392800	Strong transcription	Primary B cells from cord blood	blood
7	chr7:26384000-26389400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:26384600-26389000	Enhancers	HepG2	liver
9	chr7:26384600-26391200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:26384600-26393000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:26384800-26388600	Strong transcription	Fetal Thymus	thymus
12	chr7:26384800-26409400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:26385000-26388800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr7:26385000-26389600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:26385200-26390200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:26385200-26391200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:26385200-26393000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:26385600-26389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:26385600-26390000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:26385600-26414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:26385800-26388600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:26386000-26390000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr7:26386000-26390200	Strong transcription	Primary T cells from cord blood	blood
24	chr7:26386400-26391800	Weak transcription	K562	blood
25	chr7:26386600-26405200	Weak transcription	Thymus	Thymus
26	chr7:26386800-26393200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:26386800-26395600	Weak transcription	Fetal Lung	lung
28	chr7:26387000-26390200	Enhancers	Fetal Intestine Large	intestine
29	chr7:26387200-26388600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:26387200-26388600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:26387400-26389800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:26387400-26391400	Enhancers	Fetal Intestine Small	intestine
33	chr7:26387400-26409400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:26387600-26389000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:26387600-26389800	Enhancers	Fetal Kidney	kidney
36	chr7:26387800-26388600	Genic enhancers	Monocytes-CD14+_RO01746	blood
37	chr7:26387800-26388800	Enhancers	Small Intestine	intestine
38	chr7:26387800-26409400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:26388000-26388600	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:26388000-26388800	Enhancers	Liver	Liver
41	chr7:26388000-26389200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:26388000-26389600	Enhancers	Adipose Nuclei	Adipose
43	chr7:26388000-26409400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:26388200-26388600	Genic enhancers	GM12878-XiMat	blood
45	chr7:26388200-26389200	Enhancers	NHEK	skin
46	chr7:26388200-26389400	Weak transcription	Brain Angular Gyrus	brain
47	chr7:26388200-26389800	Enhancers	Fetal Brain Female	brain
48	chr7:26388200-26391200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:26388200-26404600	Weak transcription	Dnd41	blood
50	chr7:26388200-26405000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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