Variant report

Variant	rs41271848
Chromosome Location	chr6:56323161-56323162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1024196	0.89[EUR][1000 genomes]
rs11963288	0.94[EUR][1000 genomes]
rs11966986	0.89[EUR][1000 genomes]
rs11967796	0.89[EUR][1000 genomes]
rs11970410	0.89[EUR][1000 genomes]
rs1407831	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1535609	0.94[EUR][1000 genomes]
rs1535611	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16887928	1.00[EUR][1000 genomes]
rs16888070	0.89[EUR][1000 genomes]
rs16888106	0.89[EUR][1000 genomes]
rs2144407	0.89[EUR][1000 genomes]
rs2180148	0.89[EUR][1000 genomes]
rs2207678	0.89[EUR][1000 genomes]
rs2397224	1.00[EUR][1000 genomes]
rs28633631	0.89[EUR][1000 genomes]
rs3800026	0.94[EUR][1000 genomes]
rs3924307	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41267673	0.89[EUR][1000 genomes]
rs41271850	1.00[EUR][1000 genomes]
rs41271854	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41271856	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41271872	0.89[EUR][1000 genomes]
rs41271876	0.89[EUR][1000 genomes]
rs41271878	0.89[EUR][1000 genomes]
rs4256439	0.94[EUR][1000 genomes]
rs4288197	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs45442999	0.94[EUR][1000 genomes]
rs45553042	0.84[EUR][1000 genomes]
rs57289287	0.89[EUR][1000 genomes]
rs57350484	0.89[EUR][1000 genomes]
rs57790896	0.89[EUR][1000 genomes]
rs57822928	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58565063	0.89[EUR][1000 genomes]
rs58730144	0.94[EUR][1000 genomes]
rs59772940	0.89[EUR][1000 genomes]
rs59864125	0.94[EUR][1000 genomes]
rs62621210	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6459167	0.89[EUR][1000 genomes]
rs6459168	0.89[EUR][1000 genomes]
rs6900572	0.89[EUR][1000 genomes]
rs6903815	0.89[EUR][1000 genomes]
rs6941626	0.89[EUR][1000 genomes]
rs73455767	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73455782	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73465854	0.94[EUR][1000 genomes]
rs73746926	0.89[EUR][1000 genomes]
rs73746929	0.89[EUR][1000 genomes]
rs73747826	1.00[EUR][1000 genomes]
rs73747832	1.00[EUR][1000 genomes]
rs73749935	0.94[EUR][1000 genomes]
rs73749942	0.94[EUR][1000 genomes]
rs73749948	0.94[EUR][1000 genomes]
rs73749949	0.94[EUR][1000 genomes]
rs7749100	0.89[EUR][1000 genomes]
rs7759479	0.89[EUR][1000 genomes]
rs7760503	0.89[EUR][1000 genomes]
rs7760515	0.89[EUR][1000 genomes]
rs7760542	0.89[EUR][1000 genomes]
rs7760701	0.89[EUR][1000 genomes]
rs7761027	0.89[EUR][1000 genomes]
rs7769014	0.94[EUR][1000 genomes]
rs7775134	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:56313200-56323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:56314400-56323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:56315000-56347200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:56315000-56349800	Strong transcription	HSMM	muscle
6	chr6:56315600-56371000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:56315800-56323400	Weak transcription	Aorta	Aorta
8	chr6:56315800-56329200	Weak transcription	Small Intestine	intestine
9	chr6:56316000-56323400	Weak transcription	Gastric	stomach
10	chr6:56316000-56323800	Weak transcription	Right Ventricle	heart
11	chr6:56316400-56323800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:56316600-56323200	Weak transcription	Ovary	ovary
13	chr6:56316600-56323200	Weak transcription	Pancreas	Pancrea
14	chr6:56316600-56323400	Weak transcription	Fetal Stomach	stomach
15	chr6:56316800-56323600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:56316800-56337600	Weak transcription	Hela-S3	cervix
17	chr6:56317200-56323200	Weak transcription	Fetal Heart	heart
18	chr6:56317200-56342800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr6:56317600-56324200	Weak transcription	Brain Angular Gyrus	brain
20	chr6:56317800-56331200	Strong transcription	HSMMtube	muscle
21	chr6:56318000-56323400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:56318000-56340600	Strong transcription	Fetal Intestine Large	intestine
23	chr6:56318600-56331000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:56318800-56325200	Strong transcription	HUVEC	blood vessel
25	chr6:56318800-56325800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:56318800-56332000	Strong transcription	Fetal Lung	lung
27	chr6:56319000-56325800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:56319000-56326000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:56319000-56331200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:56319000-56348200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:56319200-56331200	Strong transcription	Osteobl	bone
32	chr6:56319200-56340400	Strong transcription	NH-A	brain
33	chr6:56319200-56348400	Strong transcription	NHDF-Ad	bronchial
34	chr6:56319400-56329200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:56319400-56343600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:56319400-56344200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:56319600-56323400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:56320000-56338800	Strong transcription	Liver	Liver
39	chr6:56320800-56325600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:56320800-56325800	Strong transcription	Adipose Nuclei	Adipose
41	chr6:56320800-56328600	Strong transcription	Brain Substantia Nigra	brain
42	chr6:56320800-56331200	Strong transcription	Brain Anterior Caudate	brain
43	chr6:56321000-56323400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:56321000-56323800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:56321000-56325400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:56321000-56325600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:56321000-56325600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:56321000-56325600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:56321000-56331000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr6:56321000-56331200	Strong transcription	Fetal Muscle Leg	muscle

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