Variant report

Variant	rs57396930
Chromosome Location	chr5:37227978-37227979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10491422	0.87[AFR][1000 genomes]
rs10512663	0.90[AFR][1000 genomes]
rs16903586	1.00[AMR][1000 genomes]
rs16903605	1.00[AMR][1000 genomes]
rs16903610	1.00[AMR][1000 genomes]
rs1833827	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2365840	0.87[AFR][1000 genomes]
rs2365843	0.82[AFR][1000 genomes]
rs59471160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60370046	1.00[AMR][1000 genomes]
rs6451319	1.00[AMR][1000 genomes]
rs6859447	1.00[AMR][1000 genomes]
rs6871857	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6877843	0.87[AFR][1000 genomes]
rs6881825	1.00[AMR][1000 genomes]
rs6884652	0.87[AFR][1000 genomes]
rs6890929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6894024	1.00[AMR][1000 genomes]
rs6896010	1.00[AMR][1000 genomes]
rs7704290	1.00[AMR][1000 genomes]
rs7724176	1.00[AMR][1000 genomes]
rs7728164	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
22	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
3	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:37198400-37236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:37209400-37234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:37209600-37233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:37209600-37239800	Weak transcription	Small Intestine	intestine
8	chr5:37209600-37240200	Weak transcription	Colonic Mucosa	Colon
9	chr5:37209600-37248000	Weak transcription	Gastric	stomach
10	chr5:37209600-37248400	Weak transcription	NHEK	skin
11	chr5:37209800-37228600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:37210600-37228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:37210800-37228000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:37211000-37228200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:37211200-37228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:37211200-37237400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:37211800-37232600	Weak transcription	Esophagus	oesophagus
18	chr5:37211800-37234400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:37213400-37236200	Weak transcription	Right Ventricle	heart
20	chr5:37214000-37233600	Weak transcription	Fetal Brain Male	brain
21	chr5:37214400-37228000	Strong transcription	Adipose Nuclei	Adipose
22	chr5:37215000-37230000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:37215000-37237000	Weak transcription	Fetal Heart	heart
24	chr5:37215000-37248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:37215200-37232400	Weak transcription	Primary T cells from cord blood	blood
26	chr5:37215200-37233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:37215200-37234000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:37215200-37248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:37215800-37228600	Strong transcription	Dnd41	blood
30	chr5:37216000-37228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:37216600-37233200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:37216600-37237000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:37216600-37248000	Weak transcription	Pancreas	Pancrea
34	chr5:37217000-37233200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:37218200-37228200	Strong transcription	Fetal Intestine Large	intestine
36	chr5:37218200-37229000	Strong transcription	Hela-S3	cervix
37	chr5:37218800-37233400	Weak transcription	GM12878-XiMat	blood
38	chr5:37219200-37228000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr5:37220000-37228200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:37220200-37228000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:37220800-37228000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr5:37221000-37228000	Strong transcription	Liver	Liver
43	chr5:37221200-37232400	Strong transcription	HSMM	muscle
44	chr5:37221200-37236400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:37221800-37235800	Weak transcription	Left Ventricle	heart
46	chr5:37222200-37228200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr5:37222400-37228000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:37223000-37228000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:37223000-37228000	Strong transcription	Placenta	Placenta
50	chr5:37223000-37233200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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