Variant report

Variant	rs58719617
Chromosome Location	chr7:127749374-127749375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127623989..127624531-chr7:127748891..127749488,2	MCF-7	breast:
2	chr7:127747173..127749516-chr7:127758374..127760292,2	K562	blood:
3	chr7:127748855..127752191-chr7:127753186..127755504,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs58530029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59781795	0.92[AFR][1000 genomes]
rs59896746	0.89[AFR][1000 genomes]
rs73721291	0.92[AFR][1000 genomes]
rs73721293	0.92[AFR][1000 genomes]
rs73721294	0.92[AFR][1000 genomes]
rs73721295	0.92[AFR][1000 genomes]
rs73721296	0.92[AFR][1000 genomes]
rs73721297	0.92[AFR][1000 genomes]
rs73721298	0.92[AFR][1000 genomes]
rs73721300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127744800-127753200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:127744800-127753400	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:127746400-127753400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:127747000-127753400	Enhancers	Thymus	Thymus
6	chr7:127747200-127749600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:127747400-127750000	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:127747800-127749400	Enhancers	Spleen	Spleen
9	chr7:127747800-127753000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:127748200-127749800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:127748200-127750200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:127748200-127751400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:127748200-127751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:127748400-127749400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:127748400-127749400	Enhancers	Brain Anterior Caudate	brain
16	chr7:127748400-127749600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr7:127748400-127749800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr7:127748400-127749800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:127748400-127749800	Enhancers	Placenta	Placenta
20	chr7:127748400-127749800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:127748400-127750000	Flanking Active TSS	GM12878-XiMat	blood
22	chr7:127748600-127749400	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr7:127748600-127749400	Enhancers	Brain Angular Gyrus	brain
24	chr7:127748600-127749400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:127748600-127749600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:127748600-127749600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:127748600-127749600	Enhancers	Fetal Brain Male	brain
28	chr7:127748600-127749800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr7:127748600-127749800	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr7:127748800-127749400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:127748800-127749400	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:127748800-127749600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:127748800-127749800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr7:127748800-127751200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:127749000-127749400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:127749000-127749600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr7:127749000-127749600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:127749000-127749600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr7:127749000-127752400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:127749000-127752400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:127749200-127749400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:127749200-127749400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr7:127749200-127749400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:127749200-127749400	Bivalent Enhancer	K562	blood
45	chr7:127749200-127749600	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr7:127749200-127749600	Flanking Active TSS	Fetal Thymus	thymus
47	chr7:127749200-127749600	Flanking Active TSS	Dnd41	blood
48	chr7:127749200-127752400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:127749200-127752600	Weak transcription	Fetal Brain Female	brain

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