Variant report

Variant	rs11124311
Chromosome Location	chr2:33480612-33480613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11124312	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3754829	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41464348	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6735659	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs749455	0.90[AMR][1000 genomes]
rs7575377	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs817535	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs877672	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs935996	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
5	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:33469800-33486200	Weak transcription	NHDF-Ad	bronchial
7	chr2:33471200-33480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:33471800-33491200	Weak transcription	Pancreas	Pancrea
9	chr2:33472000-33489800	Weak transcription	A549	lung
10	chr2:33472000-33491200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
12	chr2:33472400-33491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:33473200-33486600	Weak transcription	Fetal Lung	lung
15	chr2:33473600-33489800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:33473800-33484000	Strong transcription	Osteobl	bone
17	chr2:33474000-33491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:33474200-33491200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:33474400-33489800	Weak transcription	Placenta	Placenta
20	chr2:33474400-33490000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:33475600-33482400	Weak transcription	Fetal Heart	heart
22	chr2:33476200-33490000	Weak transcription	Esophagus	oesophagus
23	chr2:33476200-33490000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:33476200-33491000	Weak transcription	Gastric	stomach
25	chr2:33476400-33487000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:33476400-33487400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:33476400-33488200	Weak transcription	Ovary	ovary
28	chr2:33476600-33482400	Weak transcription	Left Ventricle	heart
29	chr2:33476600-33488400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:33477400-33491000	Weak transcription	Fetal Stomach	stomach
31	chr2:33477600-33489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:33478000-33482400	Weak transcription	Aorta	Aorta
33	chr2:33478000-33491000	Weak transcription	Lung	lung
34	chr2:33478400-33484400	Weak transcription	Stomach Mucosa	stomach
35	chr2:33478600-33481000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:33478800-33481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:33478800-33481000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:33478800-33483000	Weak transcription	NHLF	lung
39	chr2:33478800-33487200	Weak transcription	NH-A	brain
40	chr2:33478800-33488000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:33478800-33488200	Weak transcription	Liver	Liver
42	chr2:33478800-33491200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:33479000-33480800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:33479000-33481000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:33479000-33481000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:33479400-33480800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:33479400-33480800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:33479600-33487400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:33480000-33488000	Weak transcription	HUVEC	blood vessel
50	chr2:33480600-33485400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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