Variant report

Variant	rs45522534
Chromosome Location	chr7:99040966-99040967
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99038361..99041126-chr7:99102588..99104976,2	K562	blood:
2	chr7:99036970..99039265-chr7:99039739..99041583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160917	Chromatin interaction
ENSG00000196652	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17131918	1.00[AMR][1000 genomes]
rs41301673	1.00[AMR][1000 genomes]
rs59544825	1.00[AMR][1000 genomes]
rs73397420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405277	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 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	chr7:99037800-99042400	Weak transcription	Aorta	Aorta
2	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99038000-99041000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:99038000-99041600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:99038000-99041600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:99038000-99042000	Weak transcription	Lung	lung
7	chr7:99038000-99042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99038000-99042400	Weak transcription	Fetal Kidney	kidney
9	chr7:99038000-99042600	Weak transcription	HUVEC	blood vessel
10	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
12	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
13	chr7:99038200-99041000	Weak transcription	Liver	Liver
14	chr7:99038200-99041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:99038200-99041000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:99038200-99041000	Weak transcription	Fetal Brain Female	brain
17	chr7:99038200-99041200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:99038200-99041200	Weak transcription	Gastric	stomach
19	chr7:99038200-99042000	Weak transcription	Fetal Thymus	thymus
20	chr7:99038200-99042200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:99038200-99042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:99038200-99042200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:99038200-99042200	Weak transcription	Brain Anterior Caudate	brain
24	chr7:99038200-99042400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:99038200-99042400	Weak transcription	Esophagus	oesophagus
26	chr7:99038200-99042400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:99038200-99042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:99038200-99042600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:99038200-99042600	Weak transcription	Small Intestine	intestine
30	chr7:99038200-99043400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:99038200-99043600	Weak transcription	Fetal Brain Male	brain
32	chr7:99038200-99045600	Weak transcription	Psoas Muscle	Psoas
33	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart
34	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
36	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:99038400-99041200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:99038600-99041600	Weak transcription	HepG2	liver
42	chr7:99038600-99042000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:99038600-99042200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:99038600-99042200	Weak transcription	GM12878-XiMat	blood
45	chr7:99038600-99058000	Strong transcription	NHEK	skin
46	chr7:99038600-99058600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:99038800-99043600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:99038800-99047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:99038800-99058000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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