Variant report

Variant	rs55938401
Chromosome Location	chr17:37480276-37480277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37479901..37481702-chr17:37484726..37486933,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1046632	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12951142	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16965088	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965115	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968705	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16968717	0.84[AMR][1000 genomes]
rs16968720	0.84[AMR][1000 genomes]
rs34249490	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622913	0.83[EUR][1000 genomes]
rs4412996	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611492	0.82[EUR][1000 genomes]
rs55927957	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55976670	0.83[EUR][1000 genomes]
rs56058902	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56102014	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56143149	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161258	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56236848	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56257093	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56315211	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56387221	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57009492	0.89[EUR][1000 genomes]
rs58195267	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59085142	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59110119	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59585619	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59837361	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59869016	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59925505	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60171801	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60403655	0.85[EUR][1000 genomes]
rs67466585	0.85[EUR][1000 genomes]
rs67819651	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67966109	0.83[EUR][1000 genomes]
rs67971355	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68055032	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7219814	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823393	0.84[AMR][1000 genomes]
rs72825103	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825105	0.84[AMR][1000 genomes]
rs72825116	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825148	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825164	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825178	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825188	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72825189	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72825194	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs755499	0.87[EUR][1000 genomes]
rs8066698	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8069438	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8076041	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
7	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
8	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
9	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
12	nsv510709	chr17:37438419-37508395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	esv3315281	chr17:37480076-37480729	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3315282	chr17:37480076-37480729	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
5	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:37455400-37485200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:37455400-37495600	Weak transcription	Right Ventricle	heart
8	chr17:37455600-37484800	Weak transcription	Fetal Kidney	kidney
9	chr17:37455800-37495600	Weak transcription	Brain Germinal Matrix	brain
10	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:37458000-37495000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:37459400-37491000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:37459400-37495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37460200-37486800	Weak transcription	Fetal Intestine Large	intestine
16	chr17:37460200-37497600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:37460400-37498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:37461000-37497400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:37461000-37497600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:37461200-37480600	Weak transcription	Liver	Liver
21	chr17:37461200-37481800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr17:37461200-37485000	Weak transcription	HepG2	liver
23	chr17:37461200-37495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:37461200-37495400	Weak transcription	Thymus	Thymus
25	chr17:37461200-37515400	Weak transcription	Lung	lung
26	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:37461800-37485200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:37463800-37482000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:37463800-37485000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr17:37463800-37490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:37463800-37495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
33	chr17:37464000-37481800	Weak transcription	Primary B cells from cord blood	blood
34	chr17:37467000-37489000	Weak transcription	Fetal Intestine Small	intestine
35	chr17:37472400-37485000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr17:37472400-37497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:37472600-37481600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:37472800-37487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:37472800-37495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:37472800-37497600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr17:37472800-37499400	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:37473000-37481000	Weak transcription	Fetal Thymus	thymus
43	chr17:37473200-37488400	Weak transcription	Primary T cells from cord blood	blood
44	chr17:37473200-37488600	Weak transcription	Fetal Stomach	stomach
45	chr17:37473400-37481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:37478200-37490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:37478400-37481600	Weak transcription	K562	blood
48	chr17:37479800-37482000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr17:37479800-37482800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:37480200-37481800	Weak transcription	Primary B cells from peripheral blood	blood

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