Variant report

Variant	rs61771963
Chromosome Location	chr1:85690566-85690567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85588834..85592505-chr1:85688070..85691110,3	K562	blood:
2	chr1:85665362..85671529-chr1:85685487..85692910,10	MCF-7	breast:
3	chr1:85689720..85692131-chr1:85719135..85721500,2	MCF-7	breast:
4	chr1:85689392..85691785-chr1:85702623..85704408,2	K562	blood:
5	chr1:85665411..85671906-chr1:85683759..85698338,27	MCF-7	breast:
6	chr1:85667494..85671075-chr1:85689483..85691213,3	K562	blood:
7	chr1:85689750..85691517-chr1:85716712..85719328,2	K562	blood:
8	chr1:85689750..85692180-chr1:85716712..85719328,3	K562	blood:
9	chr1:85664799..85667009-chr1:85689577..85692364,3	K562	blood:
10	chr1:85684618..85687077-chr1:85688979..85691367,2	MCF-7	breast:
11	chr1:85690285..85692339-chr1:85702623..85704270,2	K562	blood:
12	chr1:85669575..85671940-chr1:85689295..85691213,2	K562	blood:
13	chr1:85690423..85692028-chr1:85723835..85725530,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction
ENSG00000162642	Chromatin interaction
ENSG00000162643	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1674162	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17124475	0.87[EUR][1000 genomes]
rs17125070	0.84[EUR][1000 genomes]
rs17382610	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17386490	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17386581	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61769452	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61769454	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61771964	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61771966	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61771967	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61771968	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61771969	0.88[EUR][1000 genomes]
rs61771970	0.87[EUR][1000 genomes]
rs61771973	0.85[EUR][1000 genomes]
rs61771976	0.82[EUR][1000 genomes]
rs61771977	0.82[EUR][1000 genomes]
rs61771978	0.82[EUR][1000 genomes]
rs61771979	0.82[EUR][1000 genomes]
rs817456	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs860140	0.87[AMR][1000 genomes];0.83[EUR][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	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85685800-85690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85686600-85690800	Weak transcription	Esophagus	oesophagus
3	chr1:85686800-85690800	Weak transcription	Right Atrium	heart
4	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
5	chr1:85688200-85690600	Enhancers	Colon Smooth Muscle	Colon
6	chr1:85688600-85692200	Enhancers	Fetal Intestine Small	intestine
7	chr1:85688800-85690600	Enhancers	K562	blood
8	chr1:85689000-85691000	Enhancers	Fetal Heart	heart
9	chr1:85689200-85692000	Enhancers	Stomach Mucosa	stomach
10	chr1:85689400-85690800	Weak transcription	Pancreas	Pancrea
11	chr1:85689400-85691200	Weak transcription	Gastric	stomach
12	chr1:85689400-85696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:85689600-85692000	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:85689800-85691000	Enhancers	NHEK	skin
15	chr1:85689800-85691800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85690000-85690600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:85690000-85690800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:85690000-85691000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:85690000-85691600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:85690000-85691600	Enhancers	Fetal Stomach	stomach
21	chr1:85690000-85692000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:85690000-85692200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85690000-85692200	Enhancers	Fetal Intestine Large	intestine
24	chr1:85690000-85692200	Enhancers	Fetal Kidney	kidney
25	chr1:85690000-85692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:85690200-85690600	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:85690200-85691000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:85690200-85691600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:85690200-85691600	Enhancers	Placenta	Placenta
30	chr1:85690200-85691600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:85690400-85690600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:85690400-85690600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:85690400-85690800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:85690400-85690800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:85690400-85690800	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:85690400-85691400	Flanking Active TSS	Fetal Lung	lung
37	chr1:85690400-85691600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:85690400-85691600	Enhancers	Ovary	ovary
39	chr1:85690400-85691800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:85690400-85691800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:85690400-85692000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:85690400-85692000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:85690400-85692000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:85690400-85692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:85690400-85692000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:85690400-85692000	Enhancers	HMEC	breast
47	chr1:85690400-85692200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:85690400-85692200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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