Variant report

Variant	rs13188908
Chromosome Location	chr5:179923576-179923577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
2	chr5:179920138..179923580-chr5:179954774..179958751,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113300	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10069	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10464102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10903259	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11249721	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11739089	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11739096	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742141	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746946	0.81[AFR][1000 genomes]
rs11951046	0.84[AFR][1000 genomes]
rs11953441	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11954017	0.84[AFR][1000 genomes]
rs11960481	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055052	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12187335	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12188688	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13161254	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164854	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13173695	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13177323	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13178018	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183562	0.81[AFR][1000 genomes]
rs13189165	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13189348	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131812	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34325776	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34327222	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34524755	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34693772	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34707414	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34753125	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34916144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35066026	0.90[ASN][1000 genomes]
rs36021424	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36028994	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36083585	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67209153	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6863926	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6876372	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6889526	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6896785	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897380	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6897528	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899301	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613460	0.84[AFR][1000 genomes]
rs71613470	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7701315	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7729397	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179922200-179923600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:179922200-179923800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:179922200-179923800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:179922400-179923600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr5:179922400-179923600	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr5:179922400-179923600	Enhancers	Spleen	Spleen
7	chr5:179922400-179923800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:179922400-179924000	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr5:179922600-179923600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
10	chr5:179922600-179923600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
11	chr5:179922600-179923600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr5:179922600-179923600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:179922600-179923600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:179922600-179923600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:179922600-179923600	Enhancers	Right Ventricle	heart
16	chr5:179922600-179923800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:179922600-179923800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:179922600-179923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:179922600-179923800	Genic enhancers	Placenta	Placenta
20	chr5:179922600-179924000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:179922600-179924000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:179922600-179924000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:179922600-179924200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:179922600-179924200	Enhancers	Left Ventricle	heart
25	chr5:179922600-179924600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:179922600-179925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:179922600-179925400	Weak transcription	Colonic Mucosa	Colon
28	chr5:179922800-179923600	Enhancers	Adipose Nuclei	Adipose
29	chr5:179922800-179923600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:179922800-179923600	Genic enhancers	Fetal Intestine Small	intestine
31	chr5:179922800-179923600	Genic enhancers	Fetal Muscle Leg	muscle
32	chr5:179922800-179923600	Enhancers	Ovary	ovary
33	chr5:179922800-179923600	Enhancers	Psoas Muscle	Psoas
34	chr5:179922800-179923600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:179922800-179923600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:179922800-179923600	Flanking Active TSS	HepG2	liver
37	chr5:179922800-179923800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:179922800-179923800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:179922800-179923800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:179922800-179923800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:179922800-179923800	Enhancers	Fetal Kidney	kidney
42	chr5:179922800-179923800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:179922800-179924000	Enhancers	Colon Smooth Muscle	Colon
44	chr5:179922800-179924000	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:179922800-179924200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:179922800-179924200	Enhancers	Liver	Liver
47	chr5:179922800-179924200	Enhancers	Fetal Heart	heart
48	chr5:179922800-179925400	Weak transcription	Aorta	Aorta
49	chr5:179923000-179923600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:179923000-179923600	Genic enhancers	Primary B cells from cord blood	blood

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