Variant report

Variant	rs10489511
Chromosome Location	chr1:85841837-85841838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10747319	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10747320	0.92[AFR][1000 genomes]
rs11161608	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2124138	0.92[AFR][1000 genomes]
rs233048	1.00[YRI][hapmap]
rs233052	0.92[AFR][1000 genomes]
rs233073	1.00[YRI][hapmap]
rs34102729	0.92[AFR][1000 genomes]
rs641864	1.00[YRI][hapmap]
rs684569	1.00[YRI][hapmap]
rs7526667	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7532994	0.92[AFR][1000 genomes]
rs7552422	1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
7	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
8	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:85839000-85842600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:85839000-85843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:85839400-85842000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
13	chr1:85839800-85842600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
15	chr1:85840000-85844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:85840000-85844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:85840000-85844800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:85840000-85844800	Weak transcription	Ovary	ovary
19	chr1:85840000-85845200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:85840200-85844400	Weak transcription	HSMMtube	muscle
21	chr1:85840200-85844800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:85840200-85844800	Weak transcription	Fetal Stomach	stomach
23	chr1:85840200-85845200	Weak transcription	HepG2	liver
24	chr1:85840200-85845400	Weak transcription	NHLF	lung
25	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
26	chr1:85840400-85845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85840400-85845200	Weak transcription	HSMM	muscle
28	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:85840800-85842000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85840800-85842000	Enhancers	Liver	Liver
32	chr1:85841000-85842600	Enhancers	A549	lung
33	chr1:85841200-85842200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:85841200-85842400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
36	chr1:85841200-85859800	Weak transcription	NH-A	brain
37	chr1:85841400-85842400	Enhancers	Fetal Kidney	kidney
38	chr1:85841600-85844800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:85841800-85842000	Enhancers	Fetal Lung	lung
40	chr1:85841800-85842800	Weak transcription	Osteobl	bone
41	chr1:85841800-85844800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:85841800-85845000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:85841800-85848000	Weak transcription	NHDF-Ad	bronchial

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