Variant report

Variant	rs68119865
Chromosome Location	chr1:241665323-241665324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241662653..241671177-chr1:241677044..241684165,13	K562	blood:
2	chr1:241663389..241665962-chr1:241680854..241682848,2	K562	blood:
3	chr1:241655894..241658438-chr1:241663957..241666444,2	K562	blood:

Variant related genes	Relation type
ENSG00000091483	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16841808	0.84[ASN][1000 genomes]
rs2275162	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3765803	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56957678	0.84[ASN][1000 genomes]
rs58766151	0.84[ASN][1000 genomes]
rs59580206	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59625977	0.92[ASN][1000 genomes]
rs60043538	0.92[ASN][1000 genomes]
rs60673334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61737760	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66626588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66669018	0.84[ASN][1000 genomes]
rs6678986	0.84[ASN][1000 genomes]
rs6679186	0.84[ASN][1000 genomes]
rs66799800	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6690411	0.84[ASN][1000 genomes]
rs67219057	0.92[ASN][1000 genomes]
rs67528386	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67794990	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72766004	0.84[ASN][1000 genomes]
rs73135296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr1:241647000-241666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:241655800-241677200	Strong transcription	Liver	Liver
3	chr1:241656000-241666000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:241656400-241666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:241656800-241670000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:241656800-241677000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:241656800-241678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:241657000-241669800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:241657000-241670000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:241657000-241675800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr1:241657000-241676000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:241657000-241676200	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:241657000-241676400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:241657000-241677000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:241657000-241677200	Strong transcription	Adipose Nuclei	Adipose
16	chr1:241657000-241677400	Strong transcription	Fetal Thymus	thymus
17	chr1:241657000-241680000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:241657200-241668400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:241657200-241669800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:241657200-241677000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:241657200-241677200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:241657200-241677400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:241657400-241676600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:241657400-241676800	Strong transcription	K562	blood
25	chr1:241657400-241678600	Strong transcription	Dnd41	blood
26	chr1:241657400-241680000	Strong transcription	Primary B cells from cord blood	blood
27	chr1:241657600-241666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:241657600-241667800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr1:241657600-241668200	Strong transcription	NH-A	brain
30	chr1:241657600-241672000	Strong transcription	HSMM	muscle
31	chr1:241657600-241676600	Strong transcription	Placenta	Placenta
32	chr1:241657600-241677000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:241657800-241667800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:241657800-241671400	Weak transcription	Stomach Mucosa	stomach
35	chr1:241658200-241671200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:241659000-241682000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:241659200-241665800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:241659200-241679800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:241659600-241679000	Strong transcription	HMEC	breast
40	chr1:241660000-241675800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:241660200-241666800	Weak transcription	Fetal Heart	heart
42	chr1:241660600-241666800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:241660800-241665400	Weak transcription	HSMMtube	muscle
44	chr1:241660800-241665800	Weak transcription	Fetal Kidney	kidney
45	chr1:241660800-241666600	Weak transcription	Esophagus	oesophagus
46	chr1:241660800-241666800	Weak transcription	Pancreas	Pancrea
47	chr1:241660800-241667000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:241661200-241681400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:241661400-241665400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:241661400-241665400	Weak transcription	Fetal Lung	lung

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