Variant report

Variant	rs61146829
Chromosome Location	chr1:86040259-86040260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86040063..86041996-chr1:86079149..86082023,2	K562	blood:
2	chr1:86011310..86014222-chr1:86037921..86041658,3	MCF-7	breast:
3	chr1:85964850..85967566-chr1:86038531..86040397,2	MCF-7	breast:
4	chr1:86032809..86034336-chr1:86038823..86041254,2	MCF-7	breast:
5	chr1:85965018..85967557-chr1:86039845..86042386,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59850265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520420	1.00[AMR][1000 genomes]
rs9658583	0.87[AFR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86032800-86042000	Weak transcription	Left Ventricle	heart
2	chr1:86034000-86041800	Enhancers	HMEC	breast
3	chr1:86034600-86041400	Weak transcription	Lung	lung
4	chr1:86034800-86041200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:86035200-86041400	Enhancers	HUVEC	blood vessel
6	chr1:86035400-86041000	Genic enhancers	Muscle Satellite Cultured Cells	--
7	chr1:86035400-86041400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:86035400-86041800	Weak transcription	Right Ventricle	heart
9	chr1:86035600-86041800	Weak transcription	Ovary	ovary
10	chr1:86035600-86042000	Weak transcription	Placenta	Placenta
11	chr1:86036200-86041800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:86036200-86042200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:86036400-86041000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:86036400-86041800	Weak transcription	A549	lung
15	chr1:86036600-86041000	Weak transcription	Fetal Heart	heart
16	chr1:86036600-86041200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:86036800-86041800	Enhancers	Hela-S3	cervix
18	chr1:86037000-86040600	Genic enhancers	NHLF	lung
19	chr1:86037000-86040800	Genic enhancers	HSMM	muscle
20	chr1:86037400-86041800	Weak transcription	Fetal Kidney	kidney
21	chr1:86037800-86041200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:86037800-86041200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:86037800-86041200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:86037800-86042000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:86038000-86040400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:86038000-86041800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:86038200-86040600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:86038400-86040600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:86038600-86040400	Enhancers	NHEK	skin
30	chr1:86038600-86041800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:86038600-86041800	Weak transcription	Fetal Stomach	stomach
32	chr1:86038600-86042000	Weak transcription	Esophagus	oesophagus
33	chr1:86038600-86042000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:86039200-86040400	Enhancers	Aorta	Aorta
35	chr1:86039400-86041800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:86039400-86042200	Transcr. at gene 5' and 3'	Osteobl	bone
37	chr1:86039600-86042000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:86039800-86040400	Genic enhancers	HSMMtube	muscle
39	chr1:86040000-86040400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:86040000-86040400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:86040000-86040400	Transcr. at gene 5' and 3'	NH-A	brain
42	chr1:86040000-86041200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:86040000-86041400	Weak transcription	Fetal Intestine Small	intestine
44	chr1:86040000-86041800	Weak transcription	Psoas Muscle	Psoas
45	chr1:86040000-86042000	Weak transcription	Gastric	stomach
46	chr1:86040200-86041000	Genic enhancers	NHDF-Ad	bronchial
47	chr1:86040200-86041200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:86040200-86041400	Weak transcription	Pancreas	Pancrea
49	chr1:86040200-86041400	Weak transcription	Right Atrium	heart
50	chr1:86040200-86041800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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