Variant report

Variant	rs56683591
Chromosome Location	chr4:119731788-119731789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119708422..119711280-chr4:119731156..119733832,2	K562	blood:
2	chr4:119726143..119727737-chr4:119729543..119731921,2	K562	blood:
3	chr4:119730732..119733254-chr4:119735064..119736572,2	K562	blood:
4	chr4:119731073..119732758-chr4:119759780..119761869,2	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28703190	1.00[EUR][1000 genomes]
rs55712195	1.00[EUR][1000 genomes]
rs59168173	1.00[EUR][1000 genomes]
rs61393887	1.00[EUR][1000 genomes]
rs72905464	1.00[EUR][1000 genomes]
rs72907289	1.00[EUR][1000 genomes]
rs7681126	1.00[EUR][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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:119703400-119732200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
4	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:119704800-119735200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:119708000-119732800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
9	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr4:119714000-119738200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr4:119714000-119739000	Strong transcription	HSMM	muscle
12	chr4:119714000-119739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:119714600-119737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:119715200-119733800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:119715800-119734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:119716200-119736000	Weak transcription	A549	lung
18	chr4:119716200-119738000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:119716400-119737200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:119716800-119738600	Strong transcription	GM12878-XiMat	blood
21	chr4:119717600-119737600	Strong transcription	Fetal Intestine Large	intestine
22	chr4:119718200-119735000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:119718200-119739600	Weak transcription	Brain Germinal Matrix	brain
24	chr4:119718400-119734800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:119718600-119731800	Weak transcription	Brain Angular Gyrus	brain
27	chr4:119718600-119732000	Weak transcription	Fetal Kidney	kidney
28	chr4:119718600-119734200	Weak transcription	Fetal Brain Female	brain
29	chr4:119718600-119736200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:119718600-119744200	Weak transcription	Hela-S3	cervix
31	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
32	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
33	chr4:119719600-119737000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:119720600-119738200	Strong transcription	NH-A	brain
35	chr4:119722600-119737600	Strong transcription	HUVEC	blood vessel
36	chr4:119722800-119738600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:119723000-119738000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:119723200-119731800	Strong transcription	Adipose Nuclei	Adipose
39	chr4:119723200-119738600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:119723600-119738800	Strong transcription	Dnd41	blood
41	chr4:119723800-119732600	Strong transcription	HSMMtube	muscle
42	chr4:119724000-119737600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:119724000-119748200	Weak transcription	Psoas Muscle	Psoas
44	chr4:119724600-119737400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:119724600-119738200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:119724800-119735000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:119725000-119732200	Strong transcription	Liver	Liver
48	chr4:119725000-119737400	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr4:119725400-119737200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:119725400-119738600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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