Variant report

Variant	rs4687571
Chromosome Location	chr3:53204515-53204516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53195432..53198027-chr3:53202320..53205613,4	K562	blood:
2	chr3:53204421..53206931-chr3:53208299..53209885,2	MCF-7	breast:
3	chr3:53199183..53202732-chr3:53204136..53207026,5	K562	blood:

Variant related genes	Relation type
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11130347	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11130350	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11924565	0.82[ASN][1000 genomes]
rs1483186	0.86[ASN][1000 genomes]
rs1483187	0.80[ASN][1000 genomes]
rs1872035	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306571	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3773723	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3773725	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3773727	0.81[ASN][1000 genomes]
rs3773728	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3773729	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796256	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821689	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687706	0.85[ASN][1000 genomes]
rs57046386	0.80[ASN][1000 genomes]
rs6778939	0.87[ASN][1000 genomes]
rs6778964	0.87[EUR][1000 genomes];0.92[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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53196400-53210200	Weak transcription	Psoas Muscle	Psoas
2	chr3:53196400-53212400	Weak transcription	Aorta	Aorta
3	chr3:53197200-53205400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:53197200-53213400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:53197400-53207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:53197600-53206600	Genic enhancers	Fetal Intestine Small	intestine
7	chr3:53197600-53206800	Weak transcription	Primary T cells from cord blood	blood
8	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
9	chr3:53197800-53214000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:53198000-53206800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:53198000-53215600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:53199600-53205000	Genic enhancers	Esophagus	oesophagus
13	chr3:53200200-53205800	Enhancers	Fetal Muscle Leg	muscle
14	chr3:53200200-53206400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:53200200-53207200	Enhancers	Fetal Thymus	thymus
16	chr3:53200400-53205000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:53200400-53206200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:53200600-53204800	Weak transcription	Fetal Brain Male	brain
19	chr3:53200600-53206200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:53200600-53206200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:53200600-53206400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:53200600-53206800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:53200600-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:53200800-53204600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr3:53200800-53204600	Weak transcription	Brain Angular Gyrus	brain
26	chr3:53200800-53204600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:53200800-53205000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr3:53200800-53206000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:53200800-53207200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr3:53201000-53204600	Enhancers	Lung	lung
31	chr3:53201000-53206000	Weak transcription	Fetal Heart	heart
32	chr3:53201000-53206000	Enhancers	Pancreas	Pancrea
33	chr3:53201000-53206600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:53201000-53207000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:53201200-53205200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:53201200-53210400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:53201400-53204600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:53201400-53212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:53201400-53212600	Weak transcription	Ovary	ovary
40	chr3:53201400-53212800	Weak transcription	Left Ventricle	heart
41	chr3:53201600-53206200	Weak transcription	NHLF	lung
42	chr3:53201600-53206400	Enhancers	Fetal Intestine Large	intestine
43	chr3:53201600-53209400	Weak transcription	HSMM	muscle
44	chr3:53201600-53212800	Weak transcription	NHDF-Ad	bronchial
45	chr3:53201600-53228000	Weak transcription	NH-A	brain
46	chr3:53201800-53204600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:53202000-53204800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:53202000-53207800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:53202000-53209400	Weak transcription	Osteobl	bone
50	chr3:53202000-53212400	Weak transcription	Colon Smooth Muscle	Colon

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