Variant report

Variant	rs10493772
Chromosome Location	chr1:86035513-86035514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86032700..86035743-chr1:86041382..86044963,3	MCF-7	breast:
2	chr1:86034192..86035799-chr1:86036306..86038503,2	K562	blood:
3	chr1:86031426..86034385-chr1:86034909..86037584,2	K562	blood:
4	chr1:86029966..86032926-chr1:86033202..86036409,3	K562	blood:

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11161638	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1116746	0.82[JPT][hapmap]
rs12034319	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753794	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3753795	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs4370804	0.82[JPT][hapmap]
rs721471	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528000	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][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	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	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86032800-86042000	Weak transcription	Left Ventricle	heart
2	chr1:86033200-86038200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:86033400-86037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:86033800-86037800	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:86034000-86037000	Enhancers	NHLF	lung
6	chr1:86034000-86037200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:86034000-86037400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:86034000-86037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:86034000-86037600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:86034000-86038000	Enhancers	Aorta	Aorta
11	chr1:86034000-86038000	Enhancers	NHEK	skin
12	chr1:86034000-86041800	Enhancers	HMEC	breast
13	chr1:86034200-86035800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:86034200-86038000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:86034400-86035600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:86034400-86035800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:86034400-86036400	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:86034400-86036600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:86034400-86037800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:86034600-86035600	Weak transcription	Fetal Kidney	kidney
21	chr1:86034600-86035800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:86034600-86036000	Enhancers	Fetal Stomach	stomach
23	chr1:86034600-86036200	Weak transcription	A549	lung
24	chr1:86034600-86036600	Enhancers	Fetal Heart	heart
25	chr1:86034600-86041400	Weak transcription	Lung	lung
26	chr1:86034800-86041200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:86035000-86037600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:86035200-86035600	Enhancers	Placenta	Placenta
29	chr1:86035200-86035600	Enhancers	Ovary	ovary
30	chr1:86035200-86035800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:86035200-86036200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:86035200-86036200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:86035200-86036800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:86035200-86037000	Enhancers	HSMM	muscle
35	chr1:86035200-86037000	Enhancers	HSMMtube	muscle
36	chr1:86035200-86038000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:86035200-86038400	Weak transcription	Esophagus	oesophagus
38	chr1:86035200-86041400	Enhancers	HUVEC	blood vessel
39	chr1:86035400-86035800	Flanking Active TSS	NH-A	brain
40	chr1:86035400-86036000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:86035400-86036000	Enhancers	Osteobl	bone
42	chr1:86035400-86036200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:86035400-86036600	Enhancers	NHDF-Ad	bronchial
44	chr1:86035400-86038000	Enhancers	HepG2	liver
45	chr1:86035400-86041000	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr1:86035400-86041400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:86035400-86041800	Weak transcription	Right Ventricle	heart

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