Variant report

Variant	rs6595745
Chromosome Location	chr5:126243867-126243868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6878881	0.83[AFR][1000 genomes]
rs72780289	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	15 gene(s)	inside rSNPs	diseases
4	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126214200-126245400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:126214600-126245200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:126214600-126250400	Weak transcription	Pancreas	Pancrea
7	chr5:126214800-126255200	Weak transcription	Psoas Muscle	Psoas
8	chr5:126215400-126245000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:126220800-126245400	Weak transcription	HUVEC	blood vessel
10	chr5:126229600-126253600	Weak transcription	Brain Anterior Caudate	brain
11	chr5:126229800-126245800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:126231200-126254000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:126231400-126245800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:126232400-126245800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:126232600-126245400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:126232600-126245800	Weak transcription	Fetal Kidney	kidney
17	chr5:126233800-126256000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:126237000-126254000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:126237400-126247600	Weak transcription	Fetal Heart	heart
20	chr5:126237600-126245000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:126237600-126245000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:126237600-126245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:126237800-126245400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:126237800-126245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:126237800-126256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:126238200-126256000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:126238800-126247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:126238800-126253800	Weak transcription	HSMMtube	muscle
29	chr5:126239000-126245600	Weak transcription	Primary T cells from cord blood	blood
30	chr5:126239000-126245600	Weak transcription	K562	blood
31	chr5:126239000-126250200	Weak transcription	Ovary	ovary
32	chr5:126239200-126245000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:126239200-126245400	Weak transcription	Primary B cells from cord blood	blood
34	chr5:126239200-126245600	Weak transcription	HSMM	muscle
35	chr5:126239200-126247600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:126239200-126247600	Weak transcription	Left Ventricle	heart
37	chr5:126239200-126250600	Weak transcription	Right Ventricle	heart
38	chr5:126239200-126250600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:126240600-126245400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:126241200-126250600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:126243000-126250400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:126243400-126244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:126243800-126248000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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