Variant report

Variant	rs61690344
Chromosome Location	chr15:59309291-59309292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59307669..59310242-chr15:59311271..59313306,2	K562	blood:
2	chr15:59291895..59294807-chr15:59308737..59310963,2	K562	blood:
3	chr15:59291895..59294117-chr15:59308737..59311639,2	K562	blood:
4	chr15:59278775..59282912-chr15:59307772..59312009,5	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs12438949	1.00[EUR][1000 genomes]
rs12443442	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16941030	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16941040	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16941042	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16941046	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16941051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941063	0.83[EUR][1000 genomes]
rs16941069	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16953412	0.86[ASN][1000 genomes]
rs17236439	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044436	0.83[EUR][1000 genomes]
rs2414620	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28365901	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28376133	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383490	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383491	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383497	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383502	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383504	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383512	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383513	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383531	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383536	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383542	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383545	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383546	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383551	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383552	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383553	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28383561	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28399204	0.83[EUR][1000 genomes]
rs28406885	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28491732	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28615244	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28739024	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899643	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3751538	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3764193	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3764194	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3803449	0.83[EUR][1000 genomes]
rs3809531	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4523870	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56187627	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56294483	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56891889	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57057009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57452205	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57750394	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57803886	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58014933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58207484	1.00[EUR][1000 genomes]
rs58321899	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58827061	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59037515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59398329	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59921711	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60533405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60628647	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60785075	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60899149	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60964484	0.90[EUR][1000 genomes]
rs61369543	1.00[EUR][1000 genomes]
rs73418826	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73418888	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73418890	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73418896	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74017339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74017345	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74017356	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74017357	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8035850	0.86[ASN][1000 genomes]
rs8043536	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
2	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:59281400-59323200	Weak transcription	Ovary	ovary
4	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
5	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
7	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
9	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
11	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:59282400-59323400	Weak transcription	NHLF	lung
13	chr15:59283800-59313400	Weak transcription	Right Atrium	heart
14	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
15	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
17	chr15:59284600-59323000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:59284800-59323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:59285000-59323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:59285000-59328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:59285200-59323000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:59285200-59323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:59287400-59319000	Weak transcription	Brain Germinal Matrix	brain
24	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:59292200-59321600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:59293200-59309800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:59293400-59311600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:59293800-59317000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:59295600-59323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:59295600-59335400	Weak transcription	Lung	lung
32	chr15:59295800-59323200	Weak transcription	Thymus	Thymus
33	chr15:59297600-59314200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:59297600-59314600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:59297800-59314600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:59297800-59323200	Weak transcription	HepG2	liver
37	chr15:59297800-59323200	Weak transcription	NH-A	brain
38	chr15:59298000-59317000	Weak transcription	Osteobl	bone
39	chr15:59298400-59310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:59298400-59323000	Weak transcription	NHDF-Ad	bronchial
41	chr15:59298600-59313200	Weak transcription	Fetal Intestine Large	intestine
42	chr15:59298600-59323000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:59298600-59323000	Weak transcription	NHEK	skin
44	chr15:59298600-59323200	Weak transcription	Adipose Nuclei	Adipose
45	chr15:59298800-59312400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:59298800-59313800	Weak transcription	HSMM	muscle
47	chr15:59298800-59314400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:59298800-59323000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:59298800-59323200	Weak transcription	HMEC	breast
50	chr15:59299000-59314400	Weak transcription	Primary T cells fromperipheralblood	blood

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