Variant report

Variant	rs35270311
Chromosome Location	chr1:222990310-222990311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222988355..222990367-chr1:223003630..223006609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10495202	0.96[EUR][1000 genomes]
rs1132369	0.96[EUR][1000 genomes]
rs1132371	0.96[EUR][1000 genomes]
rs17475431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475753	0.96[EUR][1000 genomes]
rs17475774	0.96[EUR][1000 genomes]
rs17534704	0.96[EUR][1000 genomes]
rs17534774	0.93[EUR][1000 genomes]
rs17535004	0.96[EUR][1000 genomes]
rs17535032	0.94[EUR][1000 genomes]
rs17535137	0.96[EUR][1000 genomes]
rs2378600	1.00[AFR][1000 genomes]
rs28362013	1.00[ASN][1000 genomes]
rs34096996	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34139393	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34151467	0.96[EUR][1000 genomes]
rs34225287	0.96[EUR][1000 genomes]
rs34229647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277924	0.96[EUR][1000 genomes]
rs34282641	1.00[AFR][1000 genomes]
rs34299243	0.96[EUR][1000 genomes]
rs34300028	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34505570	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34651530	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34690779	0.96[EUR][1000 genomes]
rs34713681	0.96[EUR][1000 genomes]
rs34755094	0.96[EUR][1000 genomes]
rs34761499	0.96[EUR][1000 genomes]
rs34791822	0.96[EUR][1000 genomes]
rs34804073	0.96[EUR][1000 genomes]
rs34830798	1.00[AFR][1000 genomes]
rs34893395	0.96[EUR][1000 genomes]
rs34898792	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34950986	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35131473	0.96[EUR][1000 genomes]
rs35197173	0.98[EUR][1000 genomes]
rs35270996	0.88[EUR][1000 genomes]
rs35283922	0.96[EUR][1000 genomes]
rs35356885	0.96[EUR][1000 genomes]
rs35399857	0.96[EUR][1000 genomes]
rs35497286	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35591569	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35756512	0.96[EUR][1000 genomes]
rs35787799	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36032255	0.96[EUR][1000 genomes]
rs36066427	0.96[EUR][1000 genomes]
rs36083483	1.00[ASN][1000 genomes]
rs36090356	0.95[EUR][1000 genomes]
rs4609435	1.00[ASN][1000 genomes]
rs61838099	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61838105	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61838107	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61838112	1.00[ASN][1000 genomes]
rs61838113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838114	1.00[ASN][1000 genomes]
rs61838115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838118	0.96[EUR][1000 genomes]
rs61838119	0.96[EUR][1000 genomes]
rs61839587	0.96[EUR][1000 genomes]
rs61839588	0.96[EUR][1000 genomes]
rs61839600	0.96[EUR][1000 genomes]
rs61839601	0.95[EUR][1000 genomes]
rs61839602	0.95[EUR][1000 genomes]
rs71644708	0.96[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989000-222990800	Weak transcription	Small Intestine	intestine
2	chr1:222989000-222999200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:222989200-222990600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:222989200-222990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:222989200-222990800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:222989200-222990800	Weak transcription	Aorta	Aorta
7	chr1:222989200-222991000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:222989200-222991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:222989200-222991400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:222989200-222991400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:222989200-222992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:222989200-222992400	Weak transcription	Ovary	ovary
13	chr1:222989200-222992400	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:222989200-222993000	Weak transcription	Fetal Thymus	thymus
15	chr1:222989200-222994000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:222989200-222997600	Weak transcription	Fetal Brain Male	brain
17	chr1:222989200-222999000	Weak transcription	Lung	lung
18	chr1:222989400-222990600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:222989400-222990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:222989400-222990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:222989400-222990600	Weak transcription	GM12878-XiMat	blood
22	chr1:222989400-222990600	Weak transcription	HMEC	breast
23	chr1:222989400-222990800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:222989400-222990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:222989400-222990800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:222989400-222990800	Weak transcription	A549	lung
27	chr1:222989400-222991000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:222989400-222991000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:222989400-222991000	Enhancers	HepG2	liver
30	chr1:222989400-222991200	Enhancers	Fetal Intestine Large	intestine
31	chr1:222989400-222991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:222989400-222991800	Enhancers	HUVEC	blood vessel
33	chr1:222989400-222992000	Enhancers	Fetal Lung	lung
34	chr1:222989400-222992000	Enhancers	NHDF-Ad	bronchial
35	chr1:222989400-222993800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:222989400-222996800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:222989400-222999000	Weak transcription	Stomach Mucosa	stomach
38	chr1:222989400-223002800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:222989600-222990800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:222989600-222991000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:222989800-222990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:222989800-222990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:222989800-222990800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:222989800-222991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:222989800-222991000	Enhancers	Fetal Brain Female	brain
47	chr1:222989800-222991200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:222989800-222991400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:222989800-222992200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:222989800-222992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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