Variant report

Variant	rs1977324
Chromosome Location	chr10:45374098-45374099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45358806..45362184-chr10:45374031..45377195,7	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10793562	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10793563	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793564	0.96[ASN][1000 genomes]
rs10900125	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10900126	0.97[ASN][1000 genomes]
rs1332625	0.82[AMR][1000 genomes]
rs2026427	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2065466	0.98[ASN][1000 genomes]
rs2183994	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281840	0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs3740086	0.92[EUR][1000 genomes]
rs3740087	0.89[EUR][1000 genomes]
rs3900184	0.99[ASN][1000 genomes]
rs4245614	0.82[ASN][1000 genomes]
rs4284362	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4439464	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506594	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4948642	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948643	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948644	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948645	0.90[ASN][1000 genomes]
rs4948921	0.91[ASN][1000 genomes]
rs4948922	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4948924	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5000415	0.98[ASN][1000 genomes]
rs7082011	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7099692	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7894608	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7900859	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7903412	0.98[ASN][1000 genomes]
rs879073	0.81[ASN][1000 genomes]
rs879343	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs879344	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1050496	chr10:45227530-45382154	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45370000-45374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:45370600-45374200	Weak transcription	Right Atrium	heart
3	chr10:45371400-45374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:45373800-45374200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:45374000-45374200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:45374000-45374200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
7	chr10:45374000-45374200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:45374000-45374200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:45374000-45374200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr10:45374000-45374200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:45374000-45374200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:45374000-45374200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:45374000-45374200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:45374000-45374200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:45374000-45374200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:45374000-45374200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:45374000-45374200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:45374000-45374200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr10:45374000-45374200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr10:45374000-45374200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:45374000-45374200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:45374000-45374200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr10:45374000-45374200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:45374000-45374200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr10:45374000-45374200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:45374000-45374200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr10:45374000-45374200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:45374000-45374200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:45374000-45374200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:45374000-45374200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:45374000-45374200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr10:45374000-45374200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr10:45374000-45374200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:45374000-45374200	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr10:45374000-45374200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr10:45374000-45374200	Enhancers	Fetal Intestine Large	intestine
37	chr10:45374000-45374200	Enhancers	Fetal Intestine Small	intestine
38	chr10:45374000-45374200	Active TSS	Fetal Lung	lung
39	chr10:45374000-45374200	Enhancers	Gastric	stomach
40	chr10:45374000-45374200	Flanking Active TSS	Left Ventricle	heart
41	chr10:45374000-45374200	Flanking Active TSS	Ovary	ovary
42	chr10:45374000-45374200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:45374000-45374200	Flanking Active TSS	A549	lung
44	chr10:45374000-45374200	Active TSS	HSMM	muscle
45	chr10:45374000-45374200	Enhancers	HUVEC	blood vessel
46	chr10:45374000-45374200	Flanking Active TSS	NH-A	brain
47	chr10:45374000-45374200	Flanking Active TSS	Osteobl	bone
48	chr10:45374000-45374400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:45374000-45374400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:45374000-45374400	Flanking Active TSS	Primary B cells from peripheral blood	blood

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