Variant report

Variant	rs7018348
Chromosome Location	chr8:9445204-9445205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10086535	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10090277	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10093972	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10105767	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10105968	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11249940	0.84[EUR][1000 genomes]
rs11249944	0.82[EUR][1000 genomes]
rs11984920	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12234900	0.84[EUR][1000 genomes]
rs12234999	0.84[EUR][1000 genomes]
rs12235001	0.84[EUR][1000 genomes]
rs28499425	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28675389	0.84[EUR][1000 genomes]
rs33944167	0.86[EUR][1000 genomes]
rs34614689	0.84[EUR][1000 genomes]
rs35052906	0.88[EUR][1000 genomes]
rs35721526	0.92[EUR][1000 genomes]
rs36036709	0.92[EUR][1000 genomes]
rs4319098	0.86[EUR][1000 genomes]
rs4348499	0.88[EUR][1000 genomes]
rs4380943	0.86[EUR][1000 genomes]
rs4383973	0.94[EUR][1000 genomes]
rs4474027	0.92[EUR][1000 genomes]
rs4612344	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4629869	0.92[EUR][1000 genomes]
rs5002814	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5002815	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5018578	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57000316	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57024674	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57331392	0.90[EUR][1000 genomes]
rs57482128	0.84[EUR][1000 genomes]
rs57580633	0.92[EUR][1000 genomes]
rs57987233	0.84[EUR][1000 genomes]
rs58458097	0.94[EUR][1000 genomes]
rs58596872	0.88[EUR][1000 genomes]
rs59201801	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59268701	0.94[EUR][1000 genomes]
rs59519630	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59940446	0.90[EUR][1000 genomes]
rs60051555	0.94[EUR][1000 genomes]
rs60078276	0.92[EUR][1000 genomes]
rs60222666	0.88[EUR][1000 genomes]
rs60857446	0.82[EUR][1000 genomes]
rs60942347	0.86[EUR][1000 genomes]
rs61594550	0.94[EUR][1000 genomes]
rs61682841	0.92[EUR][1000 genomes]
rs6422356	0.84[EUR][1000 genomes]
rs6601358	0.86[EUR][1000 genomes]
rs6984737	0.90[EUR][1000 genomes]
rs6987746	0.80[EUR][1000 genomes]
rs6990116	0.86[EUR][1000 genomes]
rs7000182	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7001395	0.86[EUR][1000 genomes]
rs7002917	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009596	0.84[EUR][1000 genomes]
rs7009863	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7013369	0.81[ASN][1000 genomes]
rs7014218	0.86[EUR][1000 genomes]
rs7016632	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018268	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73523222	0.88[EUR][1000 genomes]
rs73523224	0.92[EUR][1000 genomes]
rs73523249	0.94[EUR][1000 genomes]
rs73535828	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73537955	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73537959	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73537971	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73539904	0.92[EUR][1000 genomes]
rs73539907	0.92[EUR][1000 genomes]
rs7815297	0.86[EUR][1000 genomes]
rs7815378	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7815506	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7815644	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818016	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821007	0.92[EUR][1000 genomes]
rs7825464	0.91[ASN][1000 genomes]
rs7829677	0.91[ASN][1000 genomes]
rs7837344	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7837923	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7840161	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846023	0.88[EUR][1000 genomes]
rs9644705	0.82[EUR][1000 genomes]
rs9644706	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
4	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
6	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
7	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:9432000-9448200	Weak transcription	Fetal Brain Male	brain
13	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
14	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:9435200-9446000	Weak transcription	Fetal Thymus	thymus
16	chr8:9435200-9448800	Weak transcription	HUVEC	blood vessel
17	chr8:9435400-9448800	Weak transcription	NHLF	lung
18	chr8:9435400-9449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:9435600-9448800	Weak transcription	A549	lung
22	chr8:9435600-9449000	Weak transcription	Liver	Liver
23	chr8:9435600-9449600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:9435600-9450000	Weak transcription	Small Intestine	intestine
25	chr8:9435600-9457600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:9435800-9446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:9435800-9447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:9435800-9447400	Weak transcription	Gastric	stomach
30	chr8:9435800-9447400	Weak transcription	Ovary	ovary
31	chr8:9435800-9447400	Weak transcription	Right Atrium	heart
32	chr8:9435800-9448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:9435800-9448800	Weak transcription	Spleen	Spleen
34	chr8:9435800-9449600	Weak transcription	Stomach Mucosa	stomach
35	chr8:9435800-9459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:9435800-9465400	Weak transcription	Lung	lung
37	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
38	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
39	chr8:9436000-9446600	Weak transcription	Fetal Heart	heart
40	chr8:9436000-9446600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:9436000-9449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:9436400-9446000	Weak transcription	Hela-S3	cervix
43	chr8:9436400-9446400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:9436400-9448800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:9437400-9448800	Weak transcription	Fetal Brain Female	brain
46	chr8:9437400-9449200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:9437800-9447000	Weak transcription	Left Ventricle	heart
49	chr8:9437800-9447000	Weak transcription	Right Ventricle	heart
50	chr8:9438000-9450000	Weak transcription	K562	blood

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