Variant report

Variant	rs4515550
Chromosome Location	chr8:48218511-48218512
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	chr8:48218179..48220522-chr8:48649833..48651549,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16926260	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2130880	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28749254	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4872721	1.00[EUR][1000 genomes]
rs4873390	1.00[EUR][1000 genomes]
rs4873477	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7002441	1.00[EUR][1000 genomes]
rs7841467	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9785104	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking 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	37 gene(s)	inside rSNPs	diseases
4	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1801781	chr8:48205935-48221673	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
3	chr8:48199200-48221800	Weak transcription	NHEK	skin
4	chr8:48199200-48227800	Weak transcription	HMEC	breast
5	chr8:48201800-48220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:48204400-48227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:48204600-48227000	Weak transcription	K562	blood
8	chr8:48204600-48229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:48204800-48219000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:48205000-48227600	Weak transcription	Hela-S3	cervix
11	chr8:48207200-48231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:48207400-48224200	Weak transcription	Spleen	Spleen
13	chr8:48207400-48224600	Weak transcription	HepG2	liver
14	chr8:48207400-48229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:48207400-48238200	Weak transcription	Aorta	Aorta
16	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:48207600-48227200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:48208400-48227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:48208400-48240000	Weak transcription	Placenta	Placenta
22	chr8:48208400-48243800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:48208600-48221400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:48208600-48221800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:48208800-48220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:48208800-48242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:48209000-48227600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:48209400-48218600	Weak transcription	Brain Angular Gyrus	brain
29	chr8:48209400-48227600	Weak transcription	Osteobl	bone
30	chr8:48209400-48230800	Weak transcription	Brain Substantia Nigra	brain
31	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:48209600-48221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:48209600-48222000	Weak transcription	Liver	Liver
34	chr8:48209800-48219000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:48209800-48221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:48209800-48221400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:48209800-48222000	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:48210000-48222200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:48210000-48223200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:48210000-48228000	Weak transcription	Left Ventricle	heart
41	chr8:48210000-48242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:48210600-48218600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:48210600-48222200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:48210600-48243000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:48215200-48219600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:48215400-48219400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:48215800-48219200	Strong transcription	Primary B cells from cord blood	blood
48	chr8:48215800-48221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:48216200-48221400	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:48216200-48222400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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