Variant report

Variant	rs55901778
Chromosome Location	chr3:134281862-134281863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56095285	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56311960	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7430834	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9821505	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9827878	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9838597	0.81[EUR][1000 genomes]
rs9850930	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9985481	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134250400-134282000	Weak transcription	Stomach Mucosa	stomach
2	chr3:134256600-134287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:134269800-134282800	Weak transcription	NHLF	lung
4	chr3:134269800-134286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:134269800-134296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:134270000-134282800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:134270000-134283000	Weak transcription	Small Intestine	intestine
8	chr3:134270000-134286000	Weak transcription	Psoas Muscle	Psoas
9	chr3:134270600-134285200	Weak transcription	Brain Germinal Matrix	brain
10	chr3:134271200-134282600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:134271200-134284800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:134271400-134282600	Weak transcription	Lung	lung
13	chr3:134271400-134286400	Weak transcription	Spleen	Spleen
14	chr3:134271400-134287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:134272000-134289800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:134272200-134287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:134272600-134282600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:134272600-134282800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:134272600-134283200	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:134272800-134282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:134272800-134283400	Weak transcription	HUVEC	blood vessel
22	chr3:134272800-134284400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:134272800-134284800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:134272800-134285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:134273000-134285600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:134275200-134283400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:134276000-134282000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:134276600-134283200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:134277200-134282200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:134277200-134283400	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:134277200-134283400	Strong transcription	Left Ventricle	heart
32	chr3:134277400-134282200	Strong transcription	Fetal Thymus	thymus
33	chr3:134277400-134282400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr3:134277400-134283400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:134277600-134282000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:134278800-134282600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:134278800-134286400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:134279400-134282600	Weak transcription	Pancreas	Pancrea
39	chr3:134279400-134282800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:134279400-134283600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:134279400-134283800	Weak transcription	Dnd41	blood
42	chr3:134279400-134284400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr3:134279400-134284400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:134279400-134284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:134279400-134285200	Weak transcription	Esophagus	oesophagus
46	chr3:134279400-134285400	Weak transcription	GM12878-XiMat	blood
47	chr3:134279400-134287200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:134279400-134288600	Weak transcription	HSMMtube	muscle
49	chr3:134279600-134285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:134279600-134286200	Weak transcription	Fetal Intestine Small	intestine

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