Variant report

Variant	rs1148813
Chromosome Location	chr1:179823230-179823231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179783903..179786438-chr1:179821262..179823436,2	K562	blood:
2	chr1:179823135..179825609-chr1:179923086..179924823,2	K562	blood:
3	chr1:179821213..179823373-chr1:179831118..179833958,2	K562	blood:
4	chr1:179823204..179826152-chr1:179845562..179847449,3	K562	blood:

Variant related genes	Relation type
ENSG00000260360	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000169905	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1148814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148816	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148818	0.91[ASN][1000 genomes]
rs1281409	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1281414	0.89[ASN][1000 genomes]
rs1281415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1281419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1281424	0.91[ASN][1000 genomes]
rs1281425	0.91[ASN][1000 genomes]
rs1281431	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295972	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1299683	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1299685	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17370666	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1758143	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2762857	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2777907	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2777916	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2794584	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs476280	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs524166	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs555755	0.94[EUR][1000 genomes]
rs576723	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs627897	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs651455	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs668813	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683812	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2568232	chr1:179822418-179823700	Weak transcription Strong transcription	Chromatin interactive region	3 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	chr1:179795600-179834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:179802400-179836200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:179803600-179833600	Weak transcription	Fetal Brain Male	brain
4	chr1:179807600-179827400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:179807800-179833800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:179808600-179837000	Strong transcription	Liver	Liver
7	chr1:179808600-179839800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:179808800-179836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:179809800-179827800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:179810200-179828000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:179812200-179827800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:179812600-179842600	Weak transcription	Stomach Mucosa	stomach
13	chr1:179813200-179823400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:179813200-179839200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:179813400-179825400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:179813400-179834000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:179814200-179823600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:179814200-179834400	Weak transcription	Fetal Heart	heart
19	chr1:179814400-179839200	Strong transcription	HSMM	muscle
20	chr1:179815000-179828400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:179815000-179839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:179816000-179836000	Weak transcription	Colonic Mucosa	Colon
23	chr1:179816800-179826400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:179820200-179825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:179820200-179825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:179820200-179825600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:179820200-179825800	Weak transcription	Lung	lung
28	chr1:179820200-179826200	Weak transcription	NHLF	lung
29	chr1:179820200-179829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:179820200-179831600	Weak transcription	Esophagus	oesophagus
31	chr1:179820200-179834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:179820400-179824600	Weak transcription	Fetal Lung	lung
33	chr1:179820400-179825000	Weak transcription	Aorta	Aorta
34	chr1:179820400-179825000	Weak transcription	Brain Germinal Matrix	brain
35	chr1:179820400-179825400	Weak transcription	Fetal Brain Female	brain
36	chr1:179820400-179825600	Weak transcription	Ovary	ovary
37	chr1:179820400-179825600	Weak transcription	Pancreas	Pancrea
38	chr1:179820400-179825600	Weak transcription	Spleen	Spleen
39	chr1:179820400-179825600	Weak transcription	HMEC	breast
40	chr1:179820400-179825800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:179820400-179825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:179820400-179825800	Weak transcription	Gastric	stomach
43	chr1:179820400-179826000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:179820400-179826200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:179820400-179826200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:179820400-179826400	Weak transcription	Thymus	Thymus
47	chr1:179820400-179829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:179820400-179829800	Weak transcription	Psoas Muscle	Psoas
49	chr1:179820400-179831600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:179820400-179832200	Weak transcription	Placenta Amnion	Placenta Amnion

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