Variant report

Variant	rs12074938
Chromosome Location	chr1:76266985-76266986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76261350..76264622-chr1:76266576..76269506,4	MCF-7	breast:
2	chr1:76259028..76263655-chr1:76264104..76269438,8	MCF-7	breast:
3	chr1:76256951..76259579-chr1:76264447..76268125,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057468	Chromatin interaction
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10465725	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161872	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1144329	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1144331	0.91[AFR][1000 genomes]
rs1144333	0.91[AFR][1000 genomes]
rs1144337	0.91[AFR][1000 genomes]
rs1144339	0.91[AFR][1000 genomes]
rs1144341	0.91[AFR][1000 genomes]
rs1144342	0.91[AFR][1000 genomes]
rs1146603	0.92[EUR][1000 genomes]
rs1146605	0.92[EUR][1000 genomes]
rs1146606	0.92[EUR][1000 genomes]
rs1146608	0.92[EUR][1000 genomes]
rs1146611	0.92[EUR][1000 genomes]
rs1146612	0.92[EUR][1000 genomes]
rs1146614	0.92[EUR][1000 genomes]
rs1146615	0.92[EUR][1000 genomes]
rs1146618	0.92[EUR][1000 genomes]
rs1146619	0.92[EUR][1000 genomes]
rs1146620	0.92[EUR][1000 genomes]
rs1146622	0.92[EUR][1000 genomes]
rs1146624	0.92[EUR][1000 genomes]
rs1146628	0.92[EUR][1000 genomes]
rs1146629	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1146641	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1146651	0.91[AFR][1000 genomes]
rs12079065	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079211	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079950	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12081631	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093817	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12094698	0.92[EUR][1000 genomes]
rs1251273	0.91[AFR][1000 genomes]
rs1251274	0.91[AFR][1000 genomes]
rs13376397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097567	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097707	0.82[EUR][1000 genomes]
rs17097710	1.00[EUR][1000 genomes]
rs55781251	0.91[EUR][1000 genomes]
rs55977041	1.00[EUR][1000 genomes]
rs56322662	1.00[EUR][1000 genomes]
rs56364153	0.91[EUR][1000 genomes]
rs57443433	1.00[EUR][1000 genomes]
rs5745309	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5745392	0.86[AFR][1000 genomes]
rs5745418	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57798497	1.00[EUR][1000 genomes]
rs58125729	1.00[EUR][1000 genomes]
rs59723961	1.00[EUR][1000 genomes]
rs59932454	1.00[EUR][1000 genomes]
rs60219146	0.91[EUR][1000 genomes]
rs61124994	0.84[EUR][1000 genomes]
rs61612438	1.00[EUR][1000 genomes]
rs74088996	0.91[EUR][1000 genomes]
rs74088997	0.91[EUR][1000 genomes]
rs74088999	0.91[EUR][1000 genomes]
rs74090705	0.91[EUR][1000 genomes]
rs74090716	1.00[EUR][1000 genomes]
rs74090717	1.00[EUR][1000 genomes]
rs74090720	1.00[EUR][1000 genomes]
rs74090724	1.00[EUR][1000 genomes]
rs74090726	1.00[EUR][1000 genomes]
rs74090729	1.00[EUR][1000 genomes]
rs74090734	1.00[EUR][1000 genomes]
rs74090737	1.00[EUR][1000 genomes]
rs74090744	1.00[EUR][1000 genomes]
rs7512465	1.00[EUR][1000 genomes]
rs7544911	0.84[EUR][1000 genomes]
rs815310	0.82[EUR][1000 genomes]
rs815311	0.82[EUR][1000 genomes]
rs9970840	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262400-76267600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:76262400-76267800	Weak transcription	Osteobl	bone
3	chr1:76262400-76269400	Weak transcription	NHDF-Ad	bronchial
4	chr1:76262400-76273200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76262400-76282800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:76262600-76288800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:76263000-76269400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:76263000-76276600	Weak transcription	Gastric	stomach
10	chr1:76263000-76287400	Weak transcription	Aorta	Aorta
11	chr1:76263000-76289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:76263000-76296200	Weak transcription	Ovary	ovary
13	chr1:76263200-76268000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:76263200-76277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:76263400-76289000	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:76263600-76284000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:76264000-76269400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:76264000-76270600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:76264000-76274200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:76264000-76277000	Weak transcription	HUVEC	blood vessel
21	chr1:76264200-76268600	Weak transcription	NH-A	brain
22	chr1:76264200-76274800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:76264200-76279800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
25	chr1:76264600-76267600	Weak transcription	Right Ventricle	heart
26	chr1:76264600-76273600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:76264600-76278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:76264600-76288600	Weak transcription	Left Ventricle	heart
29	chr1:76264800-76277000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:76264800-76288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:76264800-76288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:76265600-76270200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:76266000-76272800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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