Variant report

Variant	rs59912399
Chromosome Location	chr4:119753901-119753902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119749704..119751469-chr4:119751998..119754099,2	K562	blood:
2	chr4:119733285..119736755-chr4:119749936..119754070,3	K562	blood:
3	chr4:119704843..119706853-chr4:119753213..119755649,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17050428	1.00[EUR][1000 genomes]
rs4572856	1.00[EUR][1000 genomes]
rs59514079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905487	1.00[EUR][1000 genomes]
rs72905494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
3	chr4:119732000-119755800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:119734800-119755800	Weak transcription	Thymus	Thymus
5	chr4:119735600-119756000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:119735600-119756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:119736400-119756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:119736800-119755800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:119736800-119756200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:119736800-119756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:119736800-119756200	Weak transcription	Brain Substantia Nigra	brain
12	chr4:119737000-119755800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:119737000-119756000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:119744800-119755800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:119745200-119755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:119745400-119754800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:119746000-119754800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:119746200-119754800	Weak transcription	Small Intestine	intestine
19	chr4:119748000-119754600	Genic enhancers	HepG2	liver
20	chr4:119748200-119754800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr4:119748200-119755000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:119748200-119755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:119748400-119755800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:119748600-119754200	Weak transcription	Right Atrium	heart
25	chr4:119748600-119754600	Strong transcription	HSMM	muscle
26	chr4:119748600-119756200	Weak transcription	Psoas Muscle	Psoas
27	chr4:119749000-119754000	Strong transcription	Fetal Stomach	stomach
28	chr4:119749000-119754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:119749000-119755200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:119749000-119755400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:119749000-119755600	Weak transcription	Hela-S3	cervix
32	chr4:119749000-119756200	Weak transcription	Esophagus	oesophagus
33	chr4:119749200-119754000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:119749200-119755000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:119749200-119755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:119749200-119755200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:119749200-119755800	Weak transcription	A549	lung
38	chr4:119749400-119754200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr4:119749400-119755200	Strong transcription	Fetal Muscle Leg	muscle
40	chr4:119749600-119754600	Strong transcription	Fetal Intestine Large	intestine
41	chr4:119749600-119755000	Strong transcription	NHEK	skin
42	chr4:119749600-119755200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:119749600-119755400	Strong transcription	Fetal Lung	lung
44	chr4:119749800-119754600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:119749800-119754800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:119749800-119755000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:119749800-119755000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:119749800-119755200	Strong transcription	Placenta	Placenta
49	chr4:119750000-119754200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:119750000-119754600	Strong transcription	HSMMtube	muscle

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