Variant report

Variant	rs6042195
Chromosome Location	chr20:13501291-13501292
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1012242	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1474954	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474955	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474956	0.85[ASN][1000 genomes]
rs1474957	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1884796	0.83[EUR][1000 genomes]
rs1884797	0.83[EUR][1000 genomes]
rs1963182	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998123	0.85[EUR][1000 genomes]
rs2001178	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057256	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2057257	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2070306	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273477	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2327790	0.82[EUR][1000 genomes]
rs2327791	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2876357	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34590652	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3761889	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3761890	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3803973	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3827702	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3827703	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4813130	0.80[EUR][1000 genomes]
rs4813134	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4813135	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4814233	0.84[ASN][1000 genomes]
rs4814234	0.85[EUR][1000 genomes]
rs4814235	0.82[EUR][1000 genomes]
rs4814239	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6033705	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6033722	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6033724	0.84[EUR][1000 genomes]
rs6033749	0.92[ASN][1000 genomes]
rs6033756	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6042135	0.83[EUR][1000 genomes]
rs6042141	0.81[EUR][1000 genomes]
rs6042162	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6042188	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6042192	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6042218	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6074605	0.80[EUR][1000 genomes]
rs6074610	0.86[ASN][1000 genomes]
rs6074616	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6079042	0.81[ASN][1000 genomes]
rs6079048	0.82[ASN][1000 genomes]
rs6079049	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6079062	0.81[ASN][1000 genomes]
rs6079063	0.81[ASN][1000 genomes]
rs6079086	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6079097	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6079102	0.86[ASN][1000 genomes]
rs6105087	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6105118	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6105119	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6109854	0.82[EUR][1000 genomes]
rs6109858	0.82[ASN][1000 genomes]
rs6109862	0.83[ASN][1000 genomes]
rs6109918	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6109923	0.92[ASN][1000 genomes]
rs6109935	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6109946	0.80[EUR][1000 genomes]
rs6131471	0.83[ASN][1000 genomes]
rs6134862	0.82[ASN][1000 genomes]
rs6134870	0.81[ASN][1000 genomes]
rs6134895	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6514411	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs743183	0.84[EUR][1000 genomes]
rs911014	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs932568	0.84[EUR][1000 genomes]

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	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking 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	4 gene(s)	inside rSNPs	diseases
5	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13463800-13505400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr20:13470200-13505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:13473400-13505800	Weak transcription	HSMM	muscle
4	chr20:13478200-13503800	Weak transcription	Gastric	stomach
5	chr20:13483200-13509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr20:13484000-13502600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:13484000-13502600	Weak transcription	Primary T cells from cord blood	blood
8	chr20:13484000-13502600	Weak transcription	Fetal Stomach	stomach
9	chr20:13485000-13502600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
11	chr20:13486200-13502600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr20:13487600-13515000	Weak transcription	Brain Germinal Matrix	brain
13	chr20:13488200-13502600	Weak transcription	Lung	lung
14	chr20:13488200-13502600	Weak transcription	Ovary	ovary
15	chr20:13489000-13502600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:13489000-13502600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr20:13489000-13502600	Weak transcription	Fetal Intestine Large	intestine
18	chr20:13489200-13514600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr20:13490400-13502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:13490400-13509600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr20:13490800-13502800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr20:13491800-13503400	Weak transcription	Liver	Liver
23	chr20:13492200-13503800	Weak transcription	Right Ventricle	heart
24	chr20:13492200-13505600	Weak transcription	Spleen	Spleen
25	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr20:13492600-13502600	Weak transcription	Brain Hippocampus Middle	brain
27	chr20:13493600-13502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr20:13493600-13505400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr20:13493600-13507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr20:13493600-13510800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr20:13493600-13519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr20:13493800-13504000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr20:13494000-13502600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr20:13494000-13502600	Weak transcription	A549	lung
35	chr20:13494000-13504000	Weak transcription	Fetal Intestine Small	intestine
36	chr20:13494000-13505400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:13494000-13507800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr20:13494000-13512400	Weak transcription	Placenta	Placenta
39	chr20:13494000-13515600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr20:13494200-13502800	Weak transcription	Fetal Muscle Leg	muscle
41	chr20:13494200-13516000	Weak transcription	Colonic Mucosa	Colon
42	chr20:13494400-13502600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr20:13494400-13506400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr20:13494400-13507600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr20:13494400-13507600	Weak transcription	GM12878-XiMat	blood
46	chr20:13494400-13514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr20:13494600-13502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:13494600-13503800	Weak transcription	Adipose Nuclei	Adipose
49	chr20:13494600-13516400	Weak transcription	Esophagus	oesophagus
50	chr20:13495200-13502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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