Variant report

Variant	rs4648130
Chromosome Location	chr4:103536038-103536039
allele	C/T
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	chr4:103534750..103537170-chr4:103544463..103546367,2	K562	blood:
3	chr4:103535890..103538642-chr4:103992991..103995247,2	K562	blood:
4	chr4:103534263..103536665-chr4:103540346..103543565,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs118882	0.81[YRI][hapmap]
rs170731	0.81[YRI][hapmap]
rs230515	0.87[YRI][hapmap]
rs230519	0.81[YRI][hapmap]
rs230531	0.81[YRI][hapmap]
rs230532	0.81[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:124 , 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	chr4:103514600-103538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:103514600-103539000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:103515000-103539000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:103515200-103538800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:103515400-103538800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:103515400-103538800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:103515800-103538200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:103515800-103538800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr4:103515800-103538800	Strong transcription	Rectal Smooth Muscle	rectum
13	chr4:103517600-103541600	Weak transcription	Right Atrium	heart
14	chr4:103517800-103536200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:103520800-103538600	Strong transcription	GM12878-XiMat	blood
16	chr4:103521000-103538800	Strong transcription	Placenta	Placenta
17	chr4:103521200-103537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:103521400-103554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:103521800-103537400	Strong transcription	HSMM	muscle
20	chr4:103523200-103538800	Strong transcription	Liver	Liver
21	chr4:103524600-103538800	Strong transcription	Dnd41	blood
22	chr4:103525400-103537200	Strong transcription	Colon Smooth Muscle	Colon
23	chr4:103525600-103536800	Strong transcription	HepG2	liver
24	chr4:103525800-103538800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:103527200-103537400	Strong transcription	Fetal Muscle Leg	muscle
26	chr4:103527400-103538200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:103527400-103538800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr4:103527600-103538000	Strong transcription	Spleen	Spleen
29	chr4:103527600-103538200	Strong transcription	Fetal Intestine Small	intestine
30	chr4:103527600-103538800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:103527600-103538800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:103527600-103538800	Strong transcription	Fetal Intestine Large	intestine
33	chr4:103527800-103536600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr4:103528400-103538800	Strong transcription	Pancreas	Pancrea
35	chr4:103529000-103539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:103529600-103537400	Strong transcription	HSMMtube	muscle
37	chr4:103529600-103538800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:103529600-103538800	Strong transcription	Brain Anterior Caudate	brain
39	chr4:103529600-103538800	Strong transcription	Osteobl	bone
40	chr4:103529800-103538800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:103529800-103538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:103529800-103539200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:103530000-103537800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:103531000-103538200	Strong transcription	Gastric	stomach
45	chr4:103531000-103538600	Strong transcription	NH-A	brain
46	chr4:103531200-103536600	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr4:103531200-103536800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:103531400-103538200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:103531600-103536200	Strong transcription	Colonic Mucosa	Colon
50	chr4:103531600-103536200	Genic enhancers	Fetal Thymus	thymus

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