Variant report

Variant	rs4775100
Chromosome Location	chr15:59217962-59217963
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59211698..59213211-chr15:59216846..59218373,2	K562	blood:
2	chr15:59040418..59042472-chr15:59216479..59218851,2	K562	blood:
3	chr15:59184668..59186750-chr15:59215804..59218388,2	K562	blood:

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction
ENSG00000137845	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1613602	1.00[AMR][1000 genomes]
rs1693536	1.00[AMR][1000 genomes]
rs2414616	1.00[AMR][1000 genomes]
rs2899638	1.00[AMR][1000 genomes]
rs2955703	1.00[AMR][1000 genomes]
rs392739	1.00[AMR][1000 genomes]
rs413731	1.00[AMR][1000 genomes]
rs4238332	1.00[AMR][1000 genomes]
rs4238333	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs429831	1.00[AMR][1000 genomes]
rs442321	1.00[AMR][1000 genomes]
rs4444273	1.00[AMR][1000 genomes]
rs4775104	1.00[AMR][1000 genomes]
rs4775105	1.00[AMR][1000 genomes]
rs551943	1.00[AMR][1000 genomes]
rs571030	1.00[AMR][1000 genomes]
rs6494049	1.00[AMR][1000 genomes]
rs655312	1.00[AMR][1000 genomes]
rs7163754	1.00[AMR][1000 genomes]
rs7178664	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59168600-59220000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
7	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:59192800-59221200	Weak transcription	Small Intestine	intestine
9	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:59193000-59219000	Weak transcription	Spleen	Spleen
12	chr15:59193000-59223200	Weak transcription	Aorta	Aorta
13	chr15:59193000-59223200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:59193000-59224200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:59193000-59224200	Weak transcription	Colonic Mucosa	Colon
16	chr15:59193000-59224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:59194000-59223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:59197200-59225000	Weak transcription	Gastric	stomach
19	chr15:59199800-59224200	Weak transcription	Esophagus	oesophagus
20	chr15:59200600-59224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:59202000-59219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:59202200-59219000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:59203200-59221000	Weak transcription	Brain Substantia Nigra	brain
24	chr15:59207200-59219200	Weak transcription	Brain Germinal Matrix	brain
25	chr15:59208000-59223200	Weak transcription	Brain Angular Gyrus	brain
26	chr15:59208000-59223200	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:59209400-59219400	Weak transcription	HSMMtube	muscle
28	chr15:59209600-59218400	Weak transcription	HMEC	breast
29	chr15:59209600-59218400	Weak transcription	NH-A	brain
30	chr15:59209600-59223400	Weak transcription	Fetal Brain Male	brain
31	chr15:59209600-59223400	Weak transcription	Fetal Brain Female	brain
32	chr15:59209800-59219200	Weak transcription	Brain Anterior Caudate	brain
33	chr15:59210600-59219000	Weak transcription	HepG2	liver
34	chr15:59211000-59218200	Weak transcription	HUVEC	blood vessel
35	chr15:59211000-59219800	Strong transcription	Fetal Intestine Small	intestine
36	chr15:59211000-59223200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr15:59211400-59219600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:59211400-59222600	Strong transcription	Fetal Thymus	thymus
39	chr15:59211400-59223000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:59211400-59223200	Weak transcription	Fetal Heart	heart
41	chr15:59211600-59223000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:59211800-59218800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr15:59211800-59218800	Weak transcription	Left Ventricle	heart
44	chr15:59211800-59224200	Weak transcription	Pancreas	Pancrea
45	chr15:59212200-59223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:59213200-59218400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:59214000-59218400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:59214000-59219600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:59215000-59221200	Strong transcription	Dnd41	blood
50	chr15:59215200-59218200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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