Variant report

Variant	rs34851033
Chromosome Location	chr1:222825415-222825416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222814486..222818749-chr1:222824063..222828409,6	K562	blood:
2	chr1:222824936..222827816-chr1:222831585..222834058,2	K562	blood:
3	chr1:222816190..222823911-chr1:222823944..222830315,13	K562	blood:
4	chr1:222819931..222824130-chr1:222824543..222830259,6	MCF-7	breast:
5	chr1:222819105..222820831-chr1:222824168..222826539,3	K562	blood:

Variant related genes	Relation type
ENSG00000229399	Chromatin interaction
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1986348	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2291833	0.86[ASN][1000 genomes]
rs2936019	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2936024	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2936025	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2936026	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3002150	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008611	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3008613	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3008620	0.80[ASN][1000 genomes]
rs3008624	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008627	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008628	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008632	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008635	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3008639	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34290674	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73124815	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73124822	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73124862	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73124880	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73124889	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73124891	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73126803	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73126812	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73126814	1.00[AMR][1000 genomes];0.90[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	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222818200-222826000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:222818200-222826000	Weak transcription	Ovary	ovary
3	chr1:222818200-222826000	Weak transcription	Spleen	Spleen
4	chr1:222818200-222826200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:222818200-222826200	Weak transcription	Esophagus	oesophagus
6	chr1:222818400-222825600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:222818400-222825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:222818400-222825600	Weak transcription	Psoas Muscle	Psoas
9	chr1:222818400-222825600	Weak transcription	Small Intestine	intestine
10	chr1:222818400-222826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:222818400-222826000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:222818400-222826000	Weak transcription	Gastric	stomach
13	chr1:222818400-222826000	Weak transcription	Pancreas	Pancrea
14	chr1:222818400-222826000	Weak transcription	Right Ventricle	heart
15	chr1:222818400-222826200	Weak transcription	Aorta	Aorta
16	chr1:222818400-222826600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:222818400-222827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:222818400-222833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:222818800-222826000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:222818800-222826000	Weak transcription	Fetal Heart	heart
21	chr1:222818800-222841600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:222819000-222825600	Weak transcription	Stomach Mucosa	stomach
23	chr1:222819000-222825800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:222819000-222841800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:222819200-222825600	Weak transcription	Hela-S3	cervix
26	chr1:222819200-222841400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:222819200-222841600	Strong transcription	Placenta	Placenta
28	chr1:222819400-222826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:222819400-222826800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:222819400-222828000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:222819400-222841200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:222819600-222826600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:222819800-222828000	Strong transcription	Osteobl	bone
34	chr1:222820000-222826200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:222820000-222827600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:222820000-222827600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:222820000-222827800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:222820000-222838800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:222820000-222841400	Strong transcription	HSMM	muscle
40	chr1:222820000-222841600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:222820200-222827000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:222820200-222827600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:222820200-222827800	Strong transcription	Liver	Liver
44	chr1:222820200-222838800	Strong transcription	NHDF-Ad	bronchial
45	chr1:222820200-222841400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:222820200-222841400	Strong transcription	NH-A	brain
47	chr1:222820400-222826800	Strong transcription	Primary hematopoietic stem cells	blood
48	chr1:222820400-222827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:222820400-222841800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:222820600-222825600	Strong transcription	Primary T cells from cord blood	blood

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