Variant report

Variant	rs10753433
Chromosome Location	chr1:227497747-227497748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227496685..227499623-chr1:227502057..227508313,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10429872	0.81[EUR][1000 genomes]
rs10495255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737428	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10799409	0.84[AMR][1000 genomes]
rs10799410	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10916108	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10916111	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10916118	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10916122	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12065126	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12137591	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12565871	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12566059	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12569227	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2102638	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2953650	0.80[AFR][1000 genomes]
rs34084723	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34875093	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35738984	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3795457	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339829	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653812	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4653823	0.97[ASN][1000 genomes]
rs4653824	0.97[ASN][1000 genomes]
rs4653825	0.96[ASN][1000 genomes]
rs60197034	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656653	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682120	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6684784	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6684803	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6685106	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6692294	0.81[AMR][1000 genomes]
rs6697272	0.81[AMR][1000 genomes]
rs6700730	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72759337	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516326	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7537038	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs955704	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
3	chr1:227469200-227502600	Weak transcription	HSMM	muscle
4	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
5	chr1:227475000-227502000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:227475200-227500200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:227483600-227500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:227483800-227500400	Weak transcription	Right Atrium	heart
9	chr1:227486600-227497800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:227487000-227500200	Weak transcription	HMEC	breast
11	chr1:227487000-227501800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:227487000-227501800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:227487000-227502000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:227487600-227502400	Weak transcription	Osteobl	bone
15	chr1:227487800-227500200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:227487800-227500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:227487800-227501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:227488000-227501800	Weak transcription	A549	lung
19	chr1:227490200-227503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:227491400-227501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:227491600-227499200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:227491800-227497800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:227492200-227498000	Weak transcription	Psoas Muscle	Psoas
24	chr1:227492600-227503400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:227493200-227499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:227494200-227498000	Weak transcription	Small Intestine	intestine
27	chr1:227494200-227500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:227494400-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:227494800-227497800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:227495000-227500200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:227495000-227503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:227495800-227498200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:227496000-227498400	Enhancers	Adipose Nuclei	Adipose
34	chr1:227496200-227498000	Enhancers	Brain Hippocampus Middle	brain
35	chr1:227496200-227498400	Enhancers	Fetal Heart	heart
36	chr1:227496200-227500200	Weak transcription	Pancreas	Pancrea
37	chr1:227496200-227502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:227496200-227504800	Weak transcription	Gastric	stomach
39	chr1:227496400-227498000	Enhancers	Colon Smooth Muscle	Colon
40	chr1:227496400-227501200	Enhancers	HUVEC	blood vessel
41	chr1:227496400-227501800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:227496400-227502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:227496600-227498200	Enhancers	Brain Anterior Caudate	brain
44	chr1:227496600-227498200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:227496600-227498800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:227496600-227499600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:227496800-227499400	Weak transcription	Hela-S3	cervix
48	chr1:227496800-227501800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:227496800-227502000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:227497000-227498200	Enhancers	Fetal Lung	lung

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