Variant report

Variant	rs697594
Chromosome Location	chr1:58953898-58953899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11207241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131820	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12139614	0.84[EUR][1000 genomes]
rs2271004	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6587822	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs697595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv829948	chr1:58803681-58971380	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs697594	KANK4	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
2	chr1:58923200-58954200	Weak transcription	Pancreas	Pancrea
3	chr1:58929000-58954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:58931000-58954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:58931000-58954600	Weak transcription	Fetal Intestine Large	intestine
6	chr1:58931000-58954800	Weak transcription	Gastric	stomach
7	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:58931200-58969400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:58931600-58974000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:58932600-58954600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:58932600-58974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:58932600-58977000	Weak transcription	HSMMtube	muscle
14	chr1:58932800-58954000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:58932800-58954200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:58932800-58968000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:58933000-58954200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:58933000-58954400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:58934600-58954600	Weak transcription	Esophagus	oesophagus
21	chr1:58934600-58954600	Weak transcription	Lung	lung
22	chr1:58934600-58968000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:58934600-58974000	Weak transcription	Right Ventricle	heart
24	chr1:58934800-58954200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:58934800-58954800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:58934800-58967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:58934800-58969200	Weak transcription	Liver	Liver
28	chr1:58934800-58976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:58934800-58994000	Weak transcription	HSMM	muscle
30	chr1:58935000-58974000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:58942000-58969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:58942000-58974200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:58942200-58974200	Weak transcription	Fetal Thymus	thymus
34	chr1:58942400-58954600	Weak transcription	Thymus	Thymus
35	chr1:58944400-58967800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:58944600-58976000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:58944800-58954600	Weak transcription	Fetal Kidney	kidney
38	chr1:58945000-58954600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:58945800-58974200	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:58946000-58954400	Weak transcription	Aorta	Aorta
41	chr1:58946000-58955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:58946200-58962000	Weak transcription	Adipose Nuclei	Adipose
43	chr1:58946200-58967000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:58946200-58974000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:58946200-58977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
47	chr1:58946400-58973800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:58946600-58977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:58947600-58977000	Weak transcription	Brain Angular Gyrus	brain

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