Variant report

Variant	rs6894622
Chromosome Location	chr5:37055267-37055268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37051265..37053983-chr5:37054266..37057675,3	K562	blood:
2	chr5:37040541..37042698-chr5:37053642..37056044,2	K562	blood:
3	chr5:36876709..36878610-chr5:37052890..37055659,2	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13156908	0.89[EUR][1000 genomes]
rs13162626	0.90[EUR][1000 genomes]
rs13163996	0.93[EUR][1000 genomes]
rs13164726	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13165105	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13176635	0.89[EUR][1000 genomes]
rs13181330	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13181860	0.88[EUR][1000 genomes]
rs13186745	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13187028	0.89[EUR][1000 genomes]
rs1353256	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16903418	0.90[EUR][1000 genomes]
rs17312211	0.88[EUR][1000 genomes]
rs188383	0.82[EUR][1000 genomes]
rs213513	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs289216	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs293753	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs293754	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs293775	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs298973	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34079524	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34218486	0.92[EUR][1000 genomes]
rs34272373	0.86[EUR][1000 genomes]
rs34697946	0.93[EUR][1000 genomes]
rs34807025	0.88[EUR][1000 genomes]
rs34911537	0.89[EUR][1000 genomes]
rs35127161	0.89[EUR][1000 genomes]
rs35167018	0.85[EUR][1000 genomes]
rs35357341	0.87[EUR][1000 genomes]
rs35394109	0.93[EUR][1000 genomes]
rs35809470	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36035695	0.88[EUR][1000 genomes]
rs3776594	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3899482	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58123624	0.86[EUR][1000 genomes]
rs62654860	0.92[EUR][1000 genomes]
rs6868809	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71617772	0.85[EUR][1000 genomes]
rs71617774	0.93[EUR][1000 genomes]
rs73093888	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700441	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7704442	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7716192	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs923957	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	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
10	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
3	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
6	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:37012400-37064600	Weak transcription	Gastric	stomach
9	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:37019200-37060000	Weak transcription	Psoas Muscle	Psoas
12	chr5:37022400-37063600	Weak transcription	NHEK	skin
13	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:37027600-37060000	Weak transcription	Small Intestine	intestine
15	chr5:37029800-37058200	Weak transcription	Right Ventricle	heart
16	chr5:37030800-37063800	Weak transcription	Fetal Brain Male	brain
17	chr5:37032200-37059400	Weak transcription	Aorta	Aorta
18	chr5:37035400-37071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:37036600-37065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:37037600-37056000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:37037600-37065600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr5:37037600-37065600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:37037600-37067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:37037800-37056200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:37037800-37065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:37038200-37056000	Strong transcription	Adipose Nuclei	Adipose
27	chr5:37038200-37065000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:37038200-37066000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:37038200-37066000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:37038200-37067200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:37040600-37060800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:37040600-37065600	Strong transcription	Fetal Intestine Large	intestine
33	chr5:37041800-37065600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:37042000-37065600	Strong transcription	Placenta	Placenta
35	chr5:37042200-37065600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:37042400-37065600	Strong transcription	Fetal Thymus	thymus
37	chr5:37042600-37063000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr5:37042800-37064000	Weak transcription	Spleen	Spleen
39	chr5:37043400-37066400	Strong transcription	Liver	Liver
40	chr5:37043600-37065200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:37043600-37065600	Strong transcription	Dnd41	blood
42	chr5:37043600-37065800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr5:37043800-37055800	Strong transcription	Primary T cells from cord blood	blood
44	chr5:37043800-37060800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:37043800-37065200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:37043800-37066200	Strong transcription	Primary B cells from cord blood	blood
47	chr5:37044000-37067200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:37044200-37055800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:37044200-37066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:37045400-37061600	Strong transcription	HSMM	muscle

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