Variant report

Variant	rs423818
Chromosome Location	chr2:40385566-40385567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1641451	0.83[AMR][1000 genomes]
rs368618	0.93[YRI][hapmap]
rs369739	0.85[YRI][hapmap]
rs377678	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs381171	0.86[AFR][1000 genomes]
rs421960	0.93[YRI][hapmap]
rs429228	0.91[YRI][hapmap]
rs436519	0.81[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs586717	0.83[YRI][hapmap]

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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:40358000-40392200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:40358200-40392200	Weak transcription	NHLF	lung
4	chr2:40358800-40389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:40359000-40387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:40364600-40387000	Weak transcription	Placenta	Placenta
7	chr2:40365200-40396200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:40366600-40403000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:40366800-40387200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:40366800-40391800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:40369600-40391600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:40371800-40391800	Weak transcription	NHDF-Ad	bronchial
13	chr2:40375600-40401800	Weak transcription	HSMMtube	muscle
14	chr2:40376200-40387000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:40376800-40394200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:40377600-40386200	Weak transcription	Fetal Brain Male	brain
17	chr2:40378000-40391200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:40378000-40391200	Weak transcription	Fetal Thymus	thymus
19	chr2:40378000-40399000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:40378200-40392000	Weak transcription	Gastric	stomach
21	chr2:40379200-40393400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:40381200-40391800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:40381400-40385600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:40381400-40390200	Weak transcription	Fetal Intestine Small	intestine
25	chr2:40381600-40398800	Weak transcription	Brain Angular Gyrus	brain
26	chr2:40381800-40395200	Weak transcription	Spleen	Spleen
27	chr2:40382400-40386400	Weak transcription	HMEC	breast
28	chr2:40382400-40392800	Strong transcription	Dnd41	blood
29	chr2:40382600-40391800	Strong transcription	Left Ventricle	heart
30	chr2:40382800-40391400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:40383000-40386800	Strong transcription	Fetal Brain Female	brain
32	chr2:40383000-40387800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:40383000-40392400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:40383200-40387800	Weak transcription	Brain Substantia Nigra	brain
35	chr2:40383400-40387400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:40383400-40392200	Weak transcription	Aorta	Aorta
37	chr2:40383400-40392600	Strong transcription	HSMM	muscle
38	chr2:40383600-40387200	Weak transcription	Fetal Lung	lung
39	chr2:40384200-40392200	Weak transcription	Fetal Kidney	kidney
40	chr2:40384400-40385800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:40384600-40391800	Weak transcription	Right Ventricle	heart
42	chr2:40384800-40386000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:40384800-40386200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:40384800-40387000	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:40385000-40385800	Weak transcription	Osteobl	bone
46	chr2:40385000-40386000	Weak transcription	Fetal Heart	heart
47	chr2:40385000-40387400	Weak transcription	Fetal Stomach	stomach
48	chr2:40385000-40389800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:40385000-40391200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:40385400-40386000	Enhancers	Rectal Mucosa Donor 29	rectum

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