Variant report

Variant	rs55712022
Chromosome Location	chr5:36939656-36939657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36937606..36940951-chr5:36941936..36944746,3	K562	blood:
2	chr5:36926669..36929078-chr5:36937999..36941125,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55702678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272083	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56332781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732594	0.90[EUR][1000 genomes]
rs72732600	0.90[EUR][1000 genomes]
rs72732601	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734604	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734607	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734681	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72734702	0.81[EUR][1000 genomes]
rs72736704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736708	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736723	0.81[EUR][1000 genomes]
rs72736727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:36919800-36961600	Weak transcription	K562	blood
3	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:36923600-36943600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:36924600-36943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:36924800-36955200	Weak transcription	Dnd41	blood
7	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:36929600-36947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36930000-36945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:36930800-36940000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:36932200-36940000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:36932200-36940000	Weak transcription	Brain Angular Gyrus	brain
13	chr5:36932400-36943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:36933200-36940200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:36933200-36944000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:36933400-36949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:36934600-36941000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:36935200-36947200	Weak transcription	Primary T cells from cord blood	blood
20	chr5:36936000-36939800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:36936000-36951600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:36936200-36940000	Weak transcription	Brain Anterior Caudate	brain
23	chr5:36936200-36944000	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:36936800-36939800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:36936800-36940000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:36936800-36951000	Weak transcription	Right Ventricle	heart
27	chr5:36937000-36940000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:36937800-36939800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:36937800-36940600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:36938000-36940600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:36938000-36945400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:36938000-36949200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:36938200-36939800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:36938200-36940000	Enhancers	Duodenum Mucosa	Duodenum
35	chr5:36938200-36940000	Enhancers	Pancreas	Pancrea
36	chr5:36938200-36940000	Enhancers	Spleen	Spleen
37	chr5:36938200-36940200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:36938200-36940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:36938200-36940400	Enhancers	HepG2	liver
40	chr5:36938200-36941000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:36938200-36945800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:36938200-36948200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:36938400-36939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:36938400-36940000	Weak transcription	HSMM	muscle
45	chr5:36938400-36940400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:36938400-36943400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:36938400-36944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:36938400-36945000	Weak transcription	Fetal Heart	heart
49	chr5:36938400-36946200	Weak transcription	Left Ventricle	heart
50	chr5:36938600-36939800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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