Variant report

Variant	rs6552917
Chromosome Location	chr4:186646825-186646826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10011292	0.80[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10017672	0.80[CEU][hapmap]
rs13119888	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1566349	0.80[ASN][1000 genomes]
rs1566350	0.82[JPT][hapmap]
rs2030144	0.86[CHB][hapmap]
rs4862565	0.80[CEU][hapmap]
rs4862566	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6836237	0.80[CEU][hapmap]
rs6837079	0.80[CEU][hapmap]
rs6856059	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7688359	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186630000-186651600	Weak transcription	HSMM	muscle
3	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:186638400-186648200	Weak transcription	Brain Angular Gyrus	brain
5	chr4:186638400-186648200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
7	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
8	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:186641400-186647200	Weak transcription	Aorta	Aorta
10	chr4:186641400-186651600	Weak transcription	Right Ventricle	heart
11	chr4:186641800-186648200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:186642200-186651600	Weak transcription	Spleen	Spleen
13	chr4:186642800-186651600	Weak transcription	Lung	lung
14	chr4:186642800-186657800	Weak transcription	Gastric	stomach
15	chr4:186643000-186648000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:186643000-186648200	Weak transcription	Brain Anterior Caudate	brain
17	chr4:186643000-186649200	Weak transcription	Pancreas	Pancrea
18	chr4:186643000-186651600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:186643000-186654000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:186643400-186648000	Weak transcription	HSMMtube	muscle
21	chr4:186643400-186651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:186643600-186648000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:186643600-186650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:186643800-186648200	Weak transcription	Fetal Brain Male	brain
25	chr4:186643800-186650600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
27	chr4:186644800-186648000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:186644800-186648000	Weak transcription	Small Intestine	intestine
29	chr4:186644800-186651800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:186645200-186651600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:186645400-186650000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:186645400-186651800	Weak transcription	Stomach Mucosa	stomach
33	chr4:186645600-186651600	Weak transcription	GM12878-XiMat	blood
34	chr4:186645800-186648000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:186645800-186648000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:186645800-186649600	Weak transcription	HUVEC	blood vessel
37	chr4:186645800-186651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:186645800-186651600	Weak transcription	Right Atrium	heart
39	chr4:186645800-186651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:186646000-186647200	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:186646000-186648000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:186646000-186649200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:186646000-186649200	Weak transcription	Left Ventricle	heart
44	chr4:186646000-186651600	Weak transcription	Ovary	ovary
45	chr4:186646200-186647000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:186646400-186650000	Enhancers	Liver	Liver
47	chr4:186646600-186648000	Weak transcription	Fetal Kidney	kidney
48	chr4:186646800-186648000	Weak transcription	Fetal Stomach	stomach
49	chr4:186646800-186653600	Weak transcription	HepG2	liver

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