Variant report

Variant	rs4648116
Chromosome Location	chr4:103534425-103534426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103530824..103533424-chr4:103533780..103536063,2	K562	blood:
2	chr4:103533614..103535745-chr4:103746792..103748941,2	K562	blood:
3	chr4:103534263..103536665-chr4:103540346..103543565,3	K562	blood:

Variant related genes	Relation type
ENSG00000109332	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17032779	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4648002	1.00[YRI][hapmap]
rs4648015	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648016	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4648043	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648069	1.00[MEX][hapmap]
rs4648091	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648134	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs7679591	1.00[CEU][hapmap];1.00[YRI][hapmap]

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	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003618	chr4:103530465-103562161	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103483400-103541600	Weak transcription	K562	blood
2	chr4:103513000-103542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:103513200-103536200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:103514600-103535800	Strong transcription	Adipose Nuclei	Adipose
5	chr4:103514600-103538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:103514600-103539000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:103515000-103539000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:103515200-103538800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:103515400-103538800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:103515400-103538800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:103515600-103535600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr4:103515800-103535800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:103515800-103538200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:103515800-103538800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr4:103515800-103538800	Strong transcription	Rectal Smooth Muscle	rectum
16	chr4:103517600-103541600	Weak transcription	Right Atrium	heart
17	chr4:103517800-103536200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:103520200-103535600	Strong transcription	Left Ventricle	heart
19	chr4:103520800-103538600	Strong transcription	GM12878-XiMat	blood
20	chr4:103521000-103538800	Strong transcription	Placenta	Placenta
21	chr4:103521200-103537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:103521400-103554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:103521800-103537400	Strong transcription	HSMM	muscle
24	chr4:103522400-103535600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:103523200-103538800	Strong transcription	Liver	Liver
26	chr4:103524600-103538800	Strong transcription	Dnd41	blood
27	chr4:103525400-103537200	Strong transcription	Colon Smooth Muscle	Colon
28	chr4:103525600-103536800	Strong transcription	HepG2	liver
29	chr4:103525800-103538800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:103527200-103537400	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:103527400-103538200	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:103527400-103538800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:103527600-103538000	Strong transcription	Spleen	Spleen
34	chr4:103527600-103538200	Strong transcription	Fetal Intestine Small	intestine
35	chr4:103527600-103538800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:103527600-103538800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:103527600-103538800	Strong transcription	Fetal Intestine Large	intestine
38	chr4:103527800-103536600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr4:103528000-103535400	Weak transcription	Fetal Heart	heart
40	chr4:103528400-103538800	Strong transcription	Pancreas	Pancrea
41	chr4:103529000-103539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:103529600-103535600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:103529600-103537400	Strong transcription	HSMMtube	muscle
44	chr4:103529600-103538800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:103529600-103538800	Strong transcription	Brain Anterior Caudate	brain
46	chr4:103529600-103538800	Strong transcription	Osteobl	bone
47	chr4:103529800-103538800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:103529800-103538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:103529800-103539200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:103530000-103537800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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