Variant report

Variant	rs1732165
Chromosome Location	chr3:119607605-119607606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119607000..119608720-chr3:119626179..119628022,2	MCF-7	breast:
2	chr3:119606881..119610078-chr3:119812619..119816185,3	MCF-7	breast:
3	chr3:119605247..119607921-chr3:119609001..119610890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1154596	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1154597	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11921053	0.91[ASN][1000 genomes]
rs13312998	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1579031	0.84[ASN][1000 genomes]
rs1626696	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16830683	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719888	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1719895	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732169	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182839	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037547	0.85[ASN][1000 genomes]
rs2461827	1.00[ASN][1000 genomes]
rs28516957	0.84[ASN][1000 genomes]
rs3108749	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334534	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334536	0.85[ASN][1000 genomes]
rs334551	0.88[EUR][1000 genomes]
rs334552	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334554	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334560	0.85[ASN][1000 genomes]
rs334561	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334566	0.85[ASN][1000 genomes]
rs3853592	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4072520	0.84[ASN][1000 genomes]
rs4438691	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4605584	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688043	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60272712	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6438550	0.82[ASN][1000 genomes]
rs6438554	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6438555	0.85[ASN][1000 genomes]
rs66650215	0.94[ASN][1000 genomes]
rs6762640	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6771023	0.91[ASN][1000 genomes]
rs6774693	0.91[ASN][1000 genomes]
rs6784239	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6785050	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6797689	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6797879	0.83[AFR][1000 genomes]
rs6805931	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6807868	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7617372	0.84[ASN][1000 genomes]
rs7620750	0.84[ASN][1000 genomes]
rs7624540	1.00[ASN][1000 genomes]
rs7628426	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7635604	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7636600	0.91[ASN][1000 genomes]
rs7650554	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs968824	0.85[ASN][1000 genomes]
rs9784393	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119562400-119611000	Weak transcription	Fetal Stomach	stomach
3	chr3:119569400-119629400	Weak transcription	Esophagus	oesophagus
4	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:119582400-119607800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:119582400-119610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:119582400-119610600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:119582400-119611000	Weak transcription	Brain Anterior Caudate	brain
9	chr3:119582400-119611000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:119582400-119611000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:119582400-119611000	Weak transcription	HUVEC	blood vessel
12	chr3:119582400-119624000	Weak transcription	Brain Germinal Matrix	brain
13	chr3:119582400-119626600	Weak transcription	Fetal Heart	heart
14	chr3:119582400-119629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:119582600-119607800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:119582600-119609800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:119582600-119610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:119582600-119611000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:119582600-119611000	Weak transcription	NHLF	lung
20	chr3:119582600-119627200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:119582600-119627400	Weak transcription	Right Ventricle	heart
22	chr3:119582800-119607800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:119582800-119621200	Weak transcription	Fetal Intestine Large	intestine
24	chr3:119583000-119611000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:119583600-119608000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:119583600-119621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:119583800-119630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:119584000-119622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:119585600-119607800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:119592600-119617800	Weak transcription	Osteobl	bone
31	chr3:119594800-119610800	Weak transcription	Stomach Mucosa	stomach
32	chr3:119595800-119607800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:119596000-119607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:119597600-119659000	Weak transcription	Gastric	stomach
35	chr3:119598200-119610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:119599200-119607800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:119599800-119607800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:119599800-119611000	Weak transcription	Fetal Kidney	kidney
39	chr3:119599800-119611000	Weak transcription	NH-A	brain
40	chr3:119600000-119610800	Weak transcription	Fetal Brain Male	brain
41	chr3:119600000-119611000	Weak transcription	Adipose Nuclei	Adipose
42	chr3:119601000-119610600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:119601000-119611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:119601400-119607800	Weak transcription	NHDF-Ad	bronchial
45	chr3:119602600-119607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:119603200-119610600	Weak transcription	HSMM	muscle
47	chr3:119603200-119611000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:119603200-119611000	Weak transcription	HMEC	breast
49	chr3:119603400-119607800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:119603400-119611000	Weak transcription	HSMMtube	muscle

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