Variant report

Variant	rs3805495
Chromosome Location	chr5:40755568-40755569
allele	A/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40753118..40757884-chr5:40795999..40799979,7	MCF-7	breast:
2	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
3	chr5:40754825..40755698-chr6:35227582..35228201,2	Hela-S3	cervix:
4	chr12:123011071..123011668-chr5:40755069..40755697,2	Hela-S3	cervix:
5	chr5:40754836..40755851-chr5:40878943..40880145,7	K562	blood:
6	chr5:40753427..40755619-chr5:40793452..40795341,2	K562	blood:
7	chr5:40752834..40759871-chr5:40793841..40803866,19	K562	blood:
8	chr5:40755135..40755798-chr5:40797964..40799024,4	MCF-7	breast:
9	chr5:40753631..40759305-chr5:40833742..40838306,12	K562	blood:
10	chr2:208575724..208576415-chr5:40755544..40756319,2	Hela-S3	cervix:
11	chr5:40749464..40751000-chr5:40753765..40756000,2	K562	blood:
12	chr5:40755529..40757354-chr5:40840291..40841871,2	K562	blood:
13	chr5:40753789..40755953-chr5:40763164..40764930,2	K562	blood:
14	chr5:40755529..40757855-chr5:40840073..40841871,2	K562	blood:
15	chr5:40753823..40758906-chr5:40833676..40836936,8	MCF-7	breast:
16	chr5:40754814..40759259-chr5:40796869..40798614,4	MCF-7	breast:
17	chr5:40752681..40758776-chr5:40831589..40836413,12	MCF-7	breast:
18	chr5:40752902..40758869-chr5:40832024..40838409,16	K562	blood:
19	chr5:40755012..40759487-chr5:40796000..40799940,8	K562	blood:
20	chr5:40753845..40758533-chr5:40769118..40772000,4	K562	blood:
21	chr5:40755051..40755677-chr5:40904503..40905135,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163249	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000212296	Chromatin interaction
ENSG00000132357	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1002423	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1002424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10071679	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10074991	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13361707	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329353	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28544962	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805487	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805497	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4957352	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58692207	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58751240	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59133000	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59338019	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59585832	0.97[ASN][1000 genomes]
rs6868517	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702883	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7705504	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40754200-40756400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:40754200-40756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:40754400-40756200	Active TSS	Fetal Brain Male	brain
4	chr5:40754400-40756200	Active TSS	Thymus	Thymus
5	chr5:40754400-40756400	Active TSS	Ovary	ovary
6	chr5:40754400-40756600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:40754600-40756200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:40754600-40756200	Active TSS	Primary T cells fromperipheralblood	blood
9	chr5:40754600-40756200	Active TSS	Fetal Thymus	thymus
10	chr5:40754600-40756200	Active TSS	Right Atrium	heart
11	chr5:40754600-40756200	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:40754600-40756400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:40754600-40756400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:40754600-40756400	Active TSS	Fetal Kidney	kidney
15	chr5:40754600-40756400	Active TSS	Psoas Muscle	Psoas
16	chr5:40754600-40756400	Active TSS	GM12878-XiMat	blood
17	chr5:40754600-40756600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:40754600-40756600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:40754600-40756600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:40754600-40756600	Active TSS	Fetal Intestine Large	intestine
21	chr5:40754600-40756600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr5:40754800-40756000	Active TSS	Aorta	Aorta
23	chr5:40754800-40756200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:40754800-40756200	Active TSS	Colonic Mucosa	Colon
25	chr5:40754800-40756200	Active TSS	Fetal Muscle Trunk	muscle
26	chr5:40754800-40756200	Active TSS	Fetal Stomach	stomach
27	chr5:40754800-40756200	Active TSS	Right Ventricle	heart
28	chr5:40754800-40756200	Active TSS	Stomach Mucosa	stomach
29	chr5:40754800-40756400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr5:40754800-40756400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:40754800-40756400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:40754800-40756400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr5:40754800-40756400	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:40754800-40756400	Active TSS	Fetal Lung	lung
35	chr5:40754800-40756400	Active TSS	HSMMtube	muscle
36	chr5:40754800-40756400	Active TSS	NHDF-Ad	bronchial
37	chr5:40754800-40756600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:40754800-40756600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:40754800-40756600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:40754800-40756600	Active TSS	Brain Hippocampus Middle	brain
41	chr5:40754800-40756600	Active TSS	NHEK	skin
42	chr5:40755000-40755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:40755000-40756000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:40755000-40756200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:40755000-40756200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:40755000-40756200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:40755000-40756200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr5:40755000-40756200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:40755000-40756200	Active TSS	Fetal Heart	heart
50	chr5:40755000-40756200	Active TSS	Fetal Intestine Small	intestine

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