Variant report

Variant	rs4607503
Chromosome Location	chr7:4755555-4755556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4754449..4757708-chr7:4778615..4782278,5	K562	blood:
2	chr7:4752847..4756783-chr7:4756924..4763457,6	MCF-7	breast:
3	chr7:4753897..4755889-chr7:4760582..4763452,2	MCF-7	breast:
4	chr7:4752699..4756529-chr7:4767916..4770424,4	K562	blood:
5	chr7:4752121..4753899-chr7:4754504..4756901,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56025211	0.96[AFR][1000 genomes]
rs59325270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60440111	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60814186	0.96[AFR][1000 genomes]
rs73303367	0.87[AFR][1000 genomes]
rs73303373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303383	1.00[AMR][1000 genomes]
rs73303392	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1019692	chr7:4724310-4756406	Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4730200-4755800	Weak transcription	Thymus	Thymus
2	chr7:4730800-4761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:4740600-4757400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:4748000-4757600	Weak transcription	Fetal Brain Male	brain
7	chr7:4748800-4756400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
9	chr7:4749400-4755800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:4749800-4757200	Weak transcription	Hela-S3	cervix
11	chr7:4751200-4756200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:4751200-4756800	Weak transcription	Dnd41	blood
13	chr7:4751600-4757400	Enhancers	Lung	lung
14	chr7:4751600-4761800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:4751800-4757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:4751800-4757800	Weak transcription	Fetal Brain Female	brain
17	chr7:4752000-4755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:4752400-4756200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:4752600-4756400	Enhancers	Psoas Muscle	Psoas
20	chr7:4752800-4755800	Enhancers	HepG2	liver
21	chr7:4752800-4756000	Weak transcription	Fetal Intestine Large	intestine
22	chr7:4752800-4763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
24	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
25	chr7:4753000-4756400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:4753000-4763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:4753200-4762000	Weak transcription	A549	lung
28	chr7:4753400-4757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:4753400-4759600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:4753400-4761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:4753400-4761800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:4753400-4774800	Weak transcription	K562	blood
33	chr7:4753600-4755800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:4753600-4757000	Enhancers	Spleen	Spleen
35	chr7:4753800-4755600	Enhancers	Stomach Mucosa	stomach
36	chr7:4753800-4755800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:4753800-4757400	Enhancers	Left Ventricle	heart
38	chr7:4753800-4757600	Weak transcription	GM12878-XiMat	blood
39	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
40	chr7:4754000-4755800	Enhancers	Pancreas	Pancrea
41	chr7:4754000-4758200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:4754000-4758200	Enhancers	Fetal Heart	heart
43	chr7:4754200-4755600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:4754200-4755800	Enhancers	Adipose Nuclei	Adipose
45	chr7:4754200-4755800	Enhancers	Right Atrium	heart
46	chr7:4754200-4763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:4754400-4755600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:4754400-4755600	Enhancers	Primary hematopoietic stem cells	blood
49	chr7:4754400-4755600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr7:4754400-4755600	Enhancers	NH-A	brain

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