Variant report

Variant	rs59896135
Chromosome Location	chr5:74760272-74760273
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74757814..74760336-chr5:74803800..74805741,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1004201	1.00[EUR][1000 genomes]
rs1363460	1.00[EUR][1000 genomes]
rs16872663	1.00[EUR][1000 genomes]
rs17244862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1820647	1.00[EUR][1000 genomes]
rs3097154	1.00[EUR][1000 genomes]
rs3889900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744573	1.00[EUR][1000 genomes]
rs5744574	1.00[EUR][1000 genomes]
rs5744590	1.00[EUR][1000 genomes]
rs5744614	1.00[EUR][1000 genomes]
rs5744702	1.00[EUR][1000 genomes]
rs58548840	1.00[EUR][1000 genomes]
rs58900885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6885301	1.00[EUR][1000 genomes]
rs7708710	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:74742600-74764200	Weak transcription	HSMM	muscle
6	chr5:74743000-74761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:74743000-74761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
11	chr5:74743800-74761400	Weak transcription	Fetal Thymus	thymus
12	chr5:74743800-74761400	Weak transcription	Thymus	Thymus
13	chr5:74743800-74761800	Weak transcription	K562	blood
14	chr5:74746200-74761000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:74747200-74761200	Weak transcription	Primary T cells from cord blood	blood
16	chr5:74748200-74761400	Weak transcription	Right Ventricle	heart
17	chr5:74748600-74770400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:74748800-74761200	Weak transcription	Fetal Heart	heart
19	chr5:74750600-74763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:74751000-74761400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:74751000-74761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:74751000-74761400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:74751200-74761400	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:74751200-74762000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:74751600-74761600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:74751600-74769000	Weak transcription	Liver	Liver
27	chr5:74752200-74761600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:74752400-74761600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:74753000-74760800	Weak transcription	Right Atrium	heart
30	chr5:74753400-74762000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:74754000-74760800	Weak transcription	Adipose Nuclei	Adipose
32	chr5:74754000-74761600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:74754600-74762800	Weak transcription	Fetal Intestine Large	intestine
34	chr5:74754600-74764000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:74756600-74760400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:74756800-74760600	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:74756800-74764000	Weak transcription	Fetal Kidney	kidney
38	chr5:74757000-74761400	Weak transcription	Brain Angular Gyrus	brain
39	chr5:74757200-74760400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:74757200-74760800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:74757200-74761000	Weak transcription	HUVEC	blood vessel
42	chr5:74757200-74762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:74757200-74763000	Weak transcription	Stomach Mucosa	stomach
44	chr5:74757400-74761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:74757400-74762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:74757600-74761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:74757600-74762000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:74757800-74760600	Weak transcription	Dnd41	blood
49	chr5:74757800-74764200	Weak transcription	A549	lung
50	chr5:74758000-74760600	Weak transcription	Muscle Satellite Cultured Cells	--

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