Variant report

Variant	rs118899
Chromosome Location	chr2:40396973-40396974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40395306..40398028-chr2:40400733..40404513,3	K562	blood:
2	chr2:40395306..40398028-chr2:40400733..40404513,4	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs105288	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1641456	0.89[ASN][1000 genomes]
rs1641457	0.89[ASN][1000 genomes]
rs1641458	0.89[ASN][1000 genomes]
rs1651355	0.89[ASN][1000 genomes]
rs28628343	0.97[ASN][1000 genomes]
rs35487690	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368642	0.91[ASN][1000 genomes]
rs369140	0.89[ASN][1000 genomes]
rs372052	0.89[ASN][1000 genomes]
rs373602	0.95[ASN][1000 genomes]
rs373606	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs374711	0.91[ASN][1000 genomes]
rs375180	0.91[ASN][1000 genomes]
rs376170	0.89[ASN][1000 genomes]
rs376491	0.84[ASN][1000 genomes]
rs379410	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380975	0.89[ASN][1000 genomes]
rs384511	0.87[ASN][1000 genomes]
rs384791	0.89[ASN][1000 genomes]
rs385561	0.89[ASN][1000 genomes]
rs389109	0.89[ASN][1000 genomes]
rs391631	0.87[ASN][1000 genomes]
rs393711	0.89[ASN][1000 genomes]
rs406880	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407889	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs408009	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs408662	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs410031	0.86[ASN][1000 genomes]
rs410480	0.88[ASN][1000 genomes]
rs413711	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs414766	0.86[ASN][1000 genomes]
rs417591	0.96[ASN][1000 genomes]
rs417873	0.91[ASN][1000 genomes]
rs418380	0.89[ASN][1000 genomes]
rs418780	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422411	0.87[ASN][1000 genomes]
rs423075	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs426295	0.89[ASN][1000 genomes]
rs430314	0.87[ASN][1000 genomes]
rs430473	0.87[ASN][1000 genomes]
rs434326	0.89[ASN][1000 genomes]
rs439960	0.91[ASN][1000 genomes]
rs441196	0.96[ASN][1000 genomes]
rs441413	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs441593	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs441802	0.87[ASN][1000 genomes]
rs450116	0.88[ASN][1000 genomes]
rs451074	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581477	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs581568	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679339	0.91[ASN][1000 genomes]
rs688673	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	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
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:40366600-40403000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:40375600-40401800	Weak transcription	HSMMtube	muscle
4	chr2:40378000-40399000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:40381600-40398800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:40391600-40397600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40392000-40413200	Weak transcription	Fetal Brain Female	brain
8	chr2:40392600-40405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:40392800-40397400	Weak transcription	Dnd41	blood
10	chr2:40393000-40398000	Weak transcription	Fetal Brain Male	brain
11	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
12	chr2:40393200-40401200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:40393400-40400000	Weak transcription	NHDF-Ad	bronchial
14	chr2:40393600-40397200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
16	chr2:40393800-40399000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:40394200-40406800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:40395200-40397000	Enhancers	Fetal Intestine Large	intestine
19	chr2:40395200-40397400	Enhancers	Fetal Heart	heart
20	chr2:40395400-40400400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:40396200-40397000	Enhancers	Fetal Muscle Leg	muscle
22	chr2:40396200-40397000	Enhancers	Placenta	Placenta
23	chr2:40396200-40397200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:40396200-40397600	Genic enhancers	Right Ventricle	heart
25	chr2:40396400-40397000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:40396400-40400000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:40396400-40400200	Weak transcription	Osteobl	bone
28	chr2:40396400-40405400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:40396600-40397000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:40396600-40400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:40396600-40401800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:40396800-40397000	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:40396800-40397000	Genic enhancers	Left Ventricle	heart
34	chr2:40396800-40397000	Enhancers	Right Atrium	heart
35	chr2:40396800-40397200	Weak transcription	HSMM	muscle
36	chr2:40396800-40397400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:40396800-40400400	Weak transcription	Muscle Satellite Cultured Cells	--

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