Variant report

Variant	rs73305335
Chromosome Location	chr7:4789186-4789187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4788982..4795198-chr7:4795657..4801096,8	K562	blood:
2	chr7:4680311..4683214-chr7:4786565..4789447,2	K562	blood:
3	chr7:4721334..4723717-chr7:4788278..4790771,3	MCF-7	breast:
4	chr7:4783269..4785885-chr7:4788147..4790015,2	K562	blood:
5	chr7:4787617..4789296-chr7:4791908..4793718,2	MCF-7	breast:
6	chr7:4720893..4723661-chr7:4788285..4791214,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10226141	1.00[EUR][1000 genomes]
rs10266195	1.00[EUR][1000 genomes]
rs58317459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59177795	1.00[AMR][1000 genomes]
rs6463033	1.00[EUR][1000 genomes]
rs73305332	1.00[AMR][1000 genomes]
rs73305338	1.00[EUR][1000 genomes]
rs73305347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305386	1.00[EUR][1000 genomes]
rs73312637	1.00[EUR][1000 genomes]
rs73314475	1.00[AMR][1000 genomes]
rs7341401	1.00[EUR][1000 genomes]
rs7810183	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv971482	chr7:4786671-4795436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4783400-4791000	Weak transcription	Gastric	stomach
2	chr7:4784200-4801400	Weak transcription	Small Intestine	intestine
3	chr7:4784600-4794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:4784800-4793600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:4785200-4795000	Weak transcription	Psoas Muscle	Psoas
6	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
7	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:4786000-4789200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:4786000-4789400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:4786000-4789600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:4786000-4789600	Enhancers	Placenta	Placenta
12	chr7:4786000-4789800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:4786000-4790000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:4786000-4790000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:4786000-4790200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:4786000-4791000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:4786000-4793800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:4786000-4794200	Weak transcription	Aorta	Aorta
19	chr7:4786000-4794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:4786200-4789200	Genic enhancers	Fetal Stomach	stomach
21	chr7:4786200-4789400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:4786200-4790000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr7:4786200-4790000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:4786200-4790200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:4786400-4789600	Genic enhancers	Spleen	Spleen
26	chr7:4786400-4790000	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr7:4786400-4808400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:4786600-4789400	Strong transcription	HepG2	liver
29	chr7:4786600-4790000	Genic enhancers	Fetal Muscle Leg	muscle
30	chr7:4786600-4790800	Weak transcription	Brain Angular Gyrus	brain
31	chr7:4786600-4794200	Weak transcription	HMEC	breast
32	chr7:4786600-4794800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:4786600-4798000	Weak transcription	NH-A	brain
34	chr7:4786600-4804400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:4786600-4809000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:4786800-4789200	Enhancers	Primary T cells from cord blood	blood
37	chr7:4786800-4789200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:4786800-4789200	Weak transcription	Brain Substantia Nigra	brain
39	chr7:4786800-4789200	Strong transcription	Hela-S3	cervix
40	chr7:4786800-4790000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:4786800-4790800	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr7:4786800-4791000	Weak transcription	Brain Anterior Caudate	brain
43	chr7:4786800-4793000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:4786800-4793000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:4786800-4794200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:4786800-4794800	Weak transcription	Primary B cells from cord blood	blood
47	chr7:4786800-4796600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:4786800-4801600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:4786800-4807400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:4787000-4790200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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