Variant report

Variant	rs1441800
Chromosome Location	chr5:68683838-68683839
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	chr5:68664076..68666329-chr5:68681503..68684780,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1006633	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10940223	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948450	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11948887	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952246	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952368	0.81[ASN][1000 genomes]
rs11955686	0.83[AFR][1000 genomes]
rs11958576	0.81[ASN][1000 genomes]
rs12516805	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654780	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655061	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657358	1.00[ASN][1000 genomes]
rs12658135	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12658657	1.00[ASN][1000 genomes]
rs12659035	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17236632	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010354	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28544229	0.80[EUR][1000 genomes]
rs28687907	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28817404	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756399	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756400	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756402	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4252221	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425464	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4976195	0.93[ASN][1000 genomes]
rs4976197	1.00[ASN][1000 genomes]
rs6450041	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6870267	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6871685	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888874	0.83[AFR][1000 genomes]
rs6891574	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72647235	0.93[ASN][1000 genomes]
rs72647237	0.90[ASN][1000 genomes]
rs7729938	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7730405	0.83[ASN][1000 genomes]
rs7730569	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68666600-68689600	Weak transcription	Aorta	Aorta
2	chr5:68666600-68689800	Weak transcription	Gastric	stomach
3	chr5:68666600-68689800	Weak transcription	Right Ventricle	heart
4	chr5:68666600-68696200	Weak transcription	Pancreas	Pancrea
5	chr5:68666600-68705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:68666600-68710800	Weak transcription	Esophagus	oesophagus
7	chr5:68666800-68710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:68666800-68710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:68666800-68710800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:68666800-68710800	Weak transcription	Psoas Muscle	Psoas
11	chr5:68667000-68684600	Weak transcription	Fetal Heart	heart
12	chr5:68667000-68690400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:68667200-68710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:68667200-68710800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:68667800-68710600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:68668000-68713000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:68668800-68712400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:68669600-68697600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:68669600-68701200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:68669600-68702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:68669600-68702800	Strong transcription	Liver	Liver
22	chr5:68669800-68697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:68669800-68700400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:68669800-68700800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:68670200-68700800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:68670400-68697400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:68670400-68697600	Strong transcription	Fetal Thymus	thymus
28	chr5:68670600-68702600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:68671200-68702400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:68672600-68685800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:68672600-68689600	Weak transcription	NHLF	lung
32	chr5:68672800-68685000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:68673200-68688000	Weak transcription	Small Intestine	intestine
34	chr5:68673600-68692200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:68673800-68699800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:68674000-68699600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:68674200-68685400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:68674200-68702400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:68675000-68687000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:68675400-68705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:68675600-68696000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:68675600-68708400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:68675800-68696800	Weak transcription	HMEC	breast
44	chr5:68675800-68697600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:68676000-68697800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:68676000-68698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:68676200-68686400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:68676200-68686600	Strong transcription	Fetal Lung	lung
49	chr5:68676200-68697600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:68676200-68697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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