Variant report

Variant	rs11941633
Chromosome Location	chr4:124540306-124540307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124537300..124539042-chr4:124539831..124541822,2	K562	blood:
2	chr4:124531065..124533065-chr4:124540303..124542494,2	MCF-7	breast:
3	chr4:124531898..124534337-chr4:124538687..124541460,2	K562	blood:
4	chr4:124539235..124541836-chr4:124543531..124545537,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11723511	0.88[AFR][1000 genomes]
rs11946596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946918	0.88[AFR][1000 genomes]
rs13115814	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13116417	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13124203	0.88[AFR][1000 genomes]
rs35184079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62322886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71608146	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879873	chr4:124528452-124590869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124536600-124540400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:124536600-124541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:124537200-124545000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:124537200-124545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:124537600-124540400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:124537600-124540400	Enhancers	Primary B cells from cord blood	blood
7	chr4:124538000-124540600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:124538000-124543200	Weak transcription	Fetal Brain Female	brain
9	chr4:124538200-124541200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:124538200-124541600	Weak transcription	Fetal Kidney	kidney
11	chr4:124538200-124542600	Weak transcription	Brain Germinal Matrix	brain
12	chr4:124538400-124542600	Enhancers	HepG2	liver
13	chr4:124538600-124542000	Enhancers	Liver	Liver
14	chr4:124538600-124542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:124538600-124542400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:124538600-124542600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:124538800-124541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:124538800-124541400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:124538800-124541600	Weak transcription	Right Atrium	heart
20	chr4:124538800-124542000	Weak transcription	HUVEC	blood vessel
21	chr4:124538800-124542200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:124538800-124542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:124538800-124542400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:124539000-124541400	Weak transcription	Small Intestine	intestine
25	chr4:124539000-124542200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:124539000-124542200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:124539000-124542400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:124539200-124542000	Weak transcription	Brain Anterior Caudate	brain
29	chr4:124539200-124542400	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:124539200-124542400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:124539200-124542400	Weak transcription	Fetal Thymus	thymus
32	chr4:124539200-124542400	Weak transcription	Left Ventricle	heart
33	chr4:124539200-124547600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:124539400-124540600	Enhancers	Gastric	stomach
35	chr4:124539400-124541200	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:124539400-124541600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:124539400-124541600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:124539400-124542400	Weak transcription	Fetal Stomach	stomach
39	chr4:124539600-124542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:124540000-124540600	Enhancers	Fetal Intestine Small	intestine
41	chr4:124540000-124541600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:124540000-124542600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:124540000-124542800	Weak transcription	Adipose Nuclei	Adipose
44	chr4:124540200-124541400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:124540200-124541400	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:124540200-124541400	Weak transcription	Fetal Intestine Large	intestine
47	chr4:124540200-124541600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:124540200-124541800	Enhancers	Stomach Mucosa	stomach
49	chr4:124540200-124542400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:124540200-124542400	Weak transcription	Fetal Muscle Leg	muscle

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