Variant report

Variant	rs234685
Chromosome Location	chr1:184897287-184897288
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	chr1:184890536..184892996-chr1:184895613..184898080,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs180046	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs186817	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs234634	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234635	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234637	1.00[ASN][1000 genomes]
rs234680	0.95[EUR][1000 genomes]
rs234681	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs234682	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs234683	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050699	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184863000-184905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:184877000-184899800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:184883600-184902800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:184886200-184898600	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:184887600-184899000	Weak transcription	Aorta	Aorta
6	chr1:184889600-184897400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:184889600-184908200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:184890200-184899000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:184896000-184900600	Weak transcription	NHLF	lung
10	chr1:184896400-184898000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:184896600-184897400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr1:184896600-184897400	Enhancers	Pancreas	Pancrea
13	chr1:184896600-184897800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:184896600-184898000	Enhancers	Right Ventricle	heart
15	chr1:184896600-184899800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:184896800-184897400	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:184896800-184898000	Genic enhancers	Left Ventricle	heart
18	chr1:184896800-184905400	Weak transcription	Fetal Stomach	stomach
19	chr1:184897200-184897400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:184897200-184898000	Enhancers	Esophagus	oesophagus
21	chr1:184897200-184898000	Enhancers	Psoas Muscle	Psoas
22	chr1:184897200-184898000	Enhancers	Right Atrium	heart
23	chr1:184897200-184898000	Enhancers	Stomach Smooth Muscle	stomach

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