Variant report

Variant	rs55846016
Chromosome Location	chr2:85695927-85695928
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85664864..85667831-chr2:85693184..85696110,2	K562	blood:
2	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
3	chr2:85695182..85700475-chr2:85771258..85775492,7	K562	blood:
4	chr2:85685085..85687339-chr2:85695524..85698451,3	K562	blood:
5	chr2:85693140..85697002-chr2:85763876..85768390,8	K562	blood:
6	chr2:85695571..85701406-chr2:85763524..85768199,9	MCF-7	breast:
7	chr2:85685085..85687339-chr2:85695524..85697541,2	K562	blood:
8	chr2:85688025..85690495-chr2:85693950..85697263,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266577	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11684647	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34052656	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619872	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35619560	0.95[ASN][1000 genomes]
rs58287896	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85693400-85701400	Enhancers	Fetal Intestine Small	intestine
2	chr2:85694200-85696800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:85694400-85696400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:85694400-85696800	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:85694400-85700600	Enhancers	Fetal Intestine Large	intestine
6	chr2:85694800-85696200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:85694800-85696600	Enhancers	Stomach Mucosa	stomach
8	chr2:85695000-85696200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:85695000-85696400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:85695000-85696400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:85695000-85696400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:85695000-85696400	Enhancers	Placenta	Placenta
13	chr2:85695000-85697200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:85695000-85697400	Enhancers	Pancreas	Pancrea
15	chr2:85695200-85696000	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:85695200-85696000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:85695200-85696000	Enhancers	HSMM	muscle
18	chr2:85695200-85696200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:85695200-85696200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:85695200-85696200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:85695200-85696200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:85695200-85696200	Enhancers	Colon Smooth Muscle	Colon
23	chr2:85695200-85696200	Enhancers	Fetal Muscle Leg	muscle
24	chr2:85695200-85696200	Enhancers	Fetal Stomach	stomach
25	chr2:85695200-85696200	Flanking Active TSS	A549	lung
26	chr2:85695200-85696400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:85695200-85696400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:85695200-85696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:85695200-85696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:85695200-85696400	Enhancers	Esophagus	oesophagus
31	chr2:85695200-85696400	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:85695200-85696400	Enhancers	HMEC	breast
33	chr2:85695200-85696600	Flanking Active TSS	HepG2	liver
34	chr2:85695200-85697800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:85695200-85700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:85695400-85696000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:85695400-85696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:85695400-85696000	Enhancers	Right Ventricle	heart
39	chr2:85695400-85696000	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:85695400-85696200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:85695400-85696200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:85695400-85696200	Flanking Active TSS	Liver	Liver
43	chr2:85695400-85696200	Enhancers	Fetal Heart	heart
44	chr2:85695400-85696400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:85695400-85696400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:85695400-85696400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:85695400-85696400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:85695400-85696400	Enhancers	Left Ventricle	heart
49	chr2:85695400-85696400	Enhancers	HSMMtube	muscle
50	chr2:85695400-85696400	Enhancers	NHEK	skin

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