Variant report

Variant	rs6754557
Chromosome Location	chr2:63257427-63257428
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10176805	1.00[EUR][1000 genomes]
rs10180262	1.00[EUR][1000 genomes]
rs10187907	1.00[EUR][1000 genomes]
rs10199938	1.00[EUR][1000 genomes]
rs10203623	1.00[EUR][1000 genomes]
rs10203845	1.00[EUR][1000 genomes]
rs11125951	1.00[EUR][1000 genomes]
rs13402830	1.00[EUR][1000 genomes]
rs13403570	1.00[EUR][1000 genomes]
rs13408152	1.00[EUR][1000 genomes]
rs13408991	1.00[EUR][1000 genomes]
rs13419820	1.00[EUR][1000 genomes]
rs13423930	1.00[EUR][1000 genomes]
rs13424984	1.00[EUR][1000 genomes]
rs13426053	1.00[EUR][1000 genomes]
rs13431266	1.00[EUR][1000 genomes]
rs13432479	1.00[EUR][1000 genomes]
rs55650545	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57320842	1.00[EUR][1000 genomes]
rs58171425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58523998	1.00[EUR][1000 genomes]
rs59234039	1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs60935023	1.00[EUR][1000 genomes]
rs61271282	1.00[EUR][1000 genomes]
rs61378194	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888969	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890504	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890505	1.00[EUR][1000 genomes]
rs72890506	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63199800-63258200	Weak transcription	Lung	lung
3	chr2:63207800-63258000	Weak transcription	Placenta	Placenta
4	chr2:63209400-63260000	Weak transcription	Aorta	Aorta
5	chr2:63219200-63269800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:63219400-63261600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:63224600-63271800	Weak transcription	Esophagus	oesophagus
8	chr2:63224600-63272000	Weak transcription	NHLF	lung
9	chr2:63227400-63258400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:63227400-63259200	Weak transcription	Hela-S3	cervix
11	chr2:63228000-63267600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:63238200-63262800	Weak transcription	Fetal Brain Male	brain
13	chr2:63238400-63267600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:63240800-63271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:63240800-63272200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:63241200-63261600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:63241400-63261600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:63241400-63261600	Weak transcription	NH-A	brain
19	chr2:63241600-63258200	Weak transcription	Dnd41	blood
20	chr2:63241600-63259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:63241800-63259000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:63244000-63274400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:63244200-63274600	Weak transcription	Pancreas	Pancrea
24	chr2:63244400-63260200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:63244600-63261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:63245400-63261600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:63248400-63257600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:63248800-63269400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:63248800-63271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:63250200-63260800	Weak transcription	Fetal Brain Female	brain
31	chr2:63250200-63262000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:63250800-63260800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:63252000-63258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:63252600-63257600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:63252600-63271600	Weak transcription	Fetal Stomach	stomach
36	chr2:63255000-63271800	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:63255400-63272600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:63255600-63261400	Weak transcription	NHEK	skin
39	chr2:63255600-63272000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:63255800-63258600	Weak transcription	Fetal Intestine Large	intestine
41	chr2:63255800-63265400	Weak transcription	Left Ventricle	heart
42	chr2:63255800-63265600	Weak transcription	Adipose Nuclei	Adipose
43	chr2:63256000-63258400	Weak transcription	HepG2	liver
44	chr2:63256000-63270400	Weak transcription	Primary B cells from cord blood	blood
45	chr2:63256600-63259400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:63256600-63261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:63256600-63262000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:63256800-63258200	Weak transcription	Liver	Liver
49	chr2:63256800-63261400	Weak transcription	HUVEC	blood vessel
50	chr2:63256800-63261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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