Variant report

Variant	rs1913001
Chromosome Location	chr15:77179408-77179409
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10431768	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1114717	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12593107	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1398241	0.93[EUR][1000 genomes]
rs1611866	0.84[ASN][1000 genomes]
rs1706848	0.87[AFR][1000 genomes]
rs1711018	0.94[AFR][1000 genomes]
rs1813479	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011635	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2046415	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2063542	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2629034	0.83[EUR][1000 genomes]
rs280024	0.83[EUR][1000 genomes]
rs280028	0.83[EUR][1000 genomes]
rs280029	0.83[EUR][1000 genomes]
rs280030	0.83[EUR][1000 genomes]
rs280033	0.81[EUR][1000 genomes]
rs28405838	0.90[ASN][1000 genomes]
rs28551558	0.84[ASN][1000 genomes]
rs28618274	0.90[ASN][1000 genomes]
rs2956877	0.85[AFR][1000 genomes]
rs3099134	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099137	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099138	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099140	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099142	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099143	0.84[EUR][1000 genomes]
rs3102709	0.83[EUR][1000 genomes]
rs3102710	0.82[EUR][1000 genomes]
rs3102712	0.83[EUR][1000 genomes]
rs3102716	0.83[EUR][1000 genomes]
rs3106375	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3106377	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3106378	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3106380	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3110378	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3110379	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3110381	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3110384	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35373913	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35645941	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3764244	0.87[ASN][1000 genomes]
rs4243043	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541044	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4583202	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886505	0.84[ASN][1000 genomes]
rs4886831	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886832	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886841	0.94[AFR][1000 genomes]
rs6495222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495225	0.84[AFR][1000 genomes]
rs7172639	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7174048	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7178759	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs901008	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs925492	0.91[AFR][1000 genomes]
rs9806164	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS 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 miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv1803942	chr15:77151005-77210457	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS 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	18 gene(s)	inside rSNPs	diseases
9	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1913001	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:77133200-77196800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:77140800-77195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:77142000-77195800	Weak transcription	Right Ventricle	heart
5	chr15:77146400-77196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:77148600-77195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:77148800-77181000	Weak transcription	Fetal Kidney	kidney
8	chr15:77148800-77195600	Weak transcription	Dnd41	blood
9	chr15:77154400-77179600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:77158600-77179800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:77158600-77180600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:77158600-77190800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:77158800-77195600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:77158800-77195600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:77161400-77188800	Weak transcription	Fetal Heart	heart
16	chr15:77168000-77179600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:77168000-77179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:77168400-77195000	Weak transcription	Adipose Nuclei	Adipose
19	chr15:77168600-77179600	Weak transcription	Lung	lung
20	chr15:77168600-77180000	Weak transcription	Esophagus	oesophagus
21	chr15:77168600-77180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:77168600-77181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:77168600-77195000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:77168600-77195600	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:77168600-77196800	Weak transcription	Pancreas	Pancrea
26	chr15:77168600-77196800	Weak transcription	Spleen	Spleen
27	chr15:77170200-77190600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:77172200-77182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:77172800-77195600	Weak transcription	HSMM	muscle
30	chr15:77173600-77179800	Weak transcription	Brain Substantia Nigra	brain
31	chr15:77173800-77183600	Weak transcription	Primary T cells from cord blood	blood
32	chr15:77174200-77179600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:77175600-77179600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:77175600-77196800	Weak transcription	Aorta	Aorta
35	chr15:77175600-77196800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:77175800-77179600	Weak transcription	Fetal Stomach	stomach
37	chr15:77175800-77179600	Weak transcription	Fetal Thymus	thymus
38	chr15:77175800-77195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:77176000-77179600	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:77176000-77190800	Weak transcription	Fetal Intestine Large	intestine
41	chr15:77176000-77191000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:77176000-77192800	Weak transcription	Liver	Liver
43	chr15:77176000-77192800	Weak transcription	Left Ventricle	heart
44	chr15:77176000-77195800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:77176000-77196800	Weak transcription	Ovary	ovary
46	chr15:77176200-77180200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:77176200-77180200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr15:77176200-77190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:77176200-77195400	Weak transcription	Primary B cells from cord blood	blood
50	chr15:77176200-77195800	Weak transcription	Primary B cells from peripheral blood	blood

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