Variant report

Variant	rs234671
Chromosome Location	chr1:184879828-184879829
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	chr1:184848240..184850868-chr1:184879497..184882190,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16823452	1.00[EUR][1000 genomes]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234638	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234639	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234675	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6664204	1.00[EUR][1000 genomes]
rs6679466	1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	1.00[EUR][1000 genomes]
rs74132037	1.00[EUR][1000 genomes]
rs74132038	1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	1.00[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:36 , 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	chr1:184868400-184885600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:184868600-184881400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:184868600-184886200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:184874200-184880800	Enhancers	Fetal Heart	heart
6	chr1:184874200-184883400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:184874800-184880000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:184874800-184882000	Weak transcription	Pancreas	Pancrea
9	chr1:184874800-184888800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:184875000-184884800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:184875000-184886000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:184875200-184885000	Weak transcription	GM12878-XiMat	blood
13	chr1:184875200-184888600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:184875400-184880000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:184875600-184881000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:184875600-184882000	Weak transcription	Left Ventricle	heart
17	chr1:184877000-184899800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:184877200-184880800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:184877400-184881000	Weak transcription	Right Ventricle	heart
20	chr1:184877400-184881600	Weak transcription	Psoas Muscle	Psoas
21	chr1:184878000-184880800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:184878800-184880800	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:184879200-184880800	Enhancers	NHDF-Ad	bronchial
24	chr1:184879400-184880200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:184879400-184880200	Enhancers	Osteobl	bone
26	chr1:184879600-184880400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:184879600-184887000	Weak transcription	Aorta	Aorta
28	chr1:184879800-184880000	Enhancers	Fetal Lung	lung
29	chr1:184879800-184880200	Enhancers	Adipose Nuclei	Adipose
30	chr1:184879800-184880200	Enhancers	Gastric	stomach
31	chr1:184879800-184880200	Enhancers	Lung	lung
32	chr1:184879800-184880600	Enhancers	Right Atrium	heart
33	chr1:184879800-184880600	Enhancers	NHLF	lung
34	chr1:184879800-184880800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:184879800-184881000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:184879800-184883200	Enhancers	Colon Smooth Muscle	Colon

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