Variant report

Variant	rs17188444
Chromosome Location	chr1:210853425-210853426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-3	chr1:210851657-210855274	NONHSAT009270

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12735867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12741206	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12754319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12754784	0.82[AMR][1000 genomes]
rs17188465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17260648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34245695	0.82[EUR][1000 genomes]
rs34689382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34700735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34965460	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35007206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35288293	0.93[EUR][1000 genomes]
rs35486198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35504217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35667921	0.82[EUR][1000 genomes]
rs35751839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35936572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58974451	0.93[EUR][1000 genomes]
rs61827458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61827459	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61829465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv873152	chr1:210820285-210854815	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210835400-210863200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:210837800-210854200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:210837800-210859800	Weak transcription	Right Ventricle	heart
4	chr1:210838000-210880400	Weak transcription	Gastric	stomach
5	chr1:210843600-210855800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210843800-210857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:210845000-210857000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:210845400-210853800	Weak transcription	Fetal Stomach	stomach
9	chr1:210845400-210866000	Weak transcription	Spleen	Spleen
10	chr1:210845800-210857600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:210846000-210865600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:210846200-210862400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:210846200-210865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:210846400-210855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:210846400-210884600	Weak transcription	Ovary	ovary
16	chr1:210847000-210860200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:210847400-210854200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:210847600-210862200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:210847800-210857200	Weak transcription	Aorta	Aorta
20	chr1:210848400-210857000	Strong transcription	HSMM	muscle
21	chr1:210850000-210857000	Weak transcription	Pancreas	Pancrea
22	chr1:210852200-210854000	Weak transcription	Fetal Heart	heart
23	chr1:210852200-210857800	Strong transcription	HSMMtube	muscle
24	chr1:210852600-210854800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:210852600-210857800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:210852800-210857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:210852800-210860400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:210853000-210854800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:210853400-210857000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:210853400-210857800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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