Variant report

Variant	rs1037974
Chromosome Location	chr3:119710690-119710691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119710588..119712437-chr3:119812557..119814638,2	MCF-7	breast:
2	chr3:119710167..119712500-chr3:119810883..119812424,2	MCF-7	breast:
3	chr3:119709355..119712243-chr3:119721755..119723709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13322562	1.00[ASN][1000 genomes]
rs1579030	0.80[AFR][1000 genomes]
rs1579032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17246730	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17246737	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1903764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28821007	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34002644	1.00[ASN][1000 genomes]
rs3732358	0.82[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs3755556	1.00[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[YRI][hapmap]
rs4491944	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57027844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57132942	1.00[ASN][1000 genomes]
rs58299321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58371446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58991487	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59368677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59703574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60049973	1.00[ASN][1000 genomes]
rs60325644	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60675046	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60993278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61188334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61511292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61566983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6796550	1.00[ASN][1000 genomes]
rs72548703	0.85[AFR][1000 genomes]
rs922337	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812149	1.00[ASN][1000 genomes]
rs9834346	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9843795	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9849889	1.00[JPT][hapmap]
rs9853463	1.00[JPT][hapmap]
rs9865193	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9867915	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9872321	1.00[JPT][hapmap]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:119665800-119716800	Weak transcription	HSMM	muscle
4	chr3:119681200-119723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:119687200-119716600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:119689000-119711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:119689000-119722600	Weak transcription	Gastric	stomach
8	chr3:119692400-119717000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:119692400-119723200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:119693600-119732200	Weak transcription	A549	lung
11	chr3:119700600-119722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:119700800-119717000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:119701000-119720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:119701000-119722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:119701400-119712400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:119701800-119717200	Weak transcription	Fetal Thymus	thymus
17	chr3:119706000-119711000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:119706000-119711400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:119706000-119717000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:119706200-119717000	Weak transcription	Primary B cells from cord blood	blood
21	chr3:119707400-119712000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:119707400-119716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:119707600-119712000	Weak transcription	Small Intestine	intestine
24	chr3:119708200-119716800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:119708800-119711400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:119709000-119722600	Weak transcription	Ovary	ovary
27	chr3:119709200-119723000	Weak transcription	Spleen	Spleen
28	chr3:119709400-119716800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:119709600-119717000	Weak transcription	Left Ventricle	heart
30	chr3:119709800-119711200	Enhancers	Osteobl	bone
31	chr3:119709800-119712600	Weak transcription	Psoas Muscle	Psoas
32	chr3:119710000-119710800	Enhancers	Colon Smooth Muscle	Colon
33	chr3:119710000-119710800	Enhancers	NHEK	skin
34	chr3:119710000-119712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:119710200-119710800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:119710200-119711800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:119710200-119712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:119710200-119716400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:119710200-119716600	Weak transcription	HMEC	breast
40	chr3:119710200-119716800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:119710200-119716800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:119710200-119719000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:119710200-119722600	Weak transcription	Stomach Mucosa	stomach
44	chr3:119710200-119730800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:119710400-119711800	Weak transcription	Hela-S3	cervix
46	chr3:119710400-119712000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:119710400-119712000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:119710400-119712400	Weak transcription	NHDF-Ad	bronchial
49	chr3:119710400-119716400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:119710400-119717000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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