Variant report

Variant	rs1694575
Chromosome Location	chr1:220174732-220174733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220173071..220175187-chr1:220185418..220188228,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10442691	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10863527	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863528	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768672	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1768673	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1768675	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577137	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2577162	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2577164	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2647425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647453	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647459	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2647468	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 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	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
4	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
5	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:220157200-220177200	Weak transcription	Esophagus	oesophagus
7	chr1:220158200-220177200	Weak transcription	Right Ventricle	heart
8	chr1:220162000-220175600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:220166200-220175200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:220166200-220178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:220166200-220178200	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:220166200-220184400	Strong transcription	Fetal Thymus	thymus
17	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:220166400-220175000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:220166400-220199800	Strong transcription	K562	blood
23	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:220166600-220175000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:220166600-220180800	Strong transcription	Placenta	Placenta
28	chr1:220166600-220185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:220166600-220188400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:220166800-220199000	Strong transcription	Dnd41	blood
32	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:220167000-220181200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:220167200-220175200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:220167400-220177000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:220167600-220185600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:220167800-220177200	Weak transcription	Aorta	Aorta
39	chr1:220167800-220177200	Weak transcription	Gastric	stomach
40	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
41	chr1:220168200-220185600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:220168400-220180600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:220168600-220179200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:220168800-220174800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:220168800-220174800	Strong transcription	Osteobl	bone
47	chr1:220168800-220179600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:220168800-220179600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:220168800-220184400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:220169000-220184600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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