Variant report

Variant	rs10801167
Chromosome Location	chr1:193007603-193007604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193005193..193008080-chr1:193010225..193012392,2	K562	blood:
2	chr1:193007124..193009673-chr1:193173474..193175709,2	K562	blood:
3	chr1:193004279..193005988-chr1:193007207..193008711,2	K562	blood:
4	chr1:193003150..193004895-chr1:193006252..193008709,2	MCF-7	breast:
5	chr1:193001316..193003311-chr1:193006679..193008894,2	K562	blood:
6	chr1:193004968..193008080-chr1:193010225..193012392,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10733078	0.88[ASN][1000 genomes]
rs10737620	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10801173	0.93[ASN][1000 genomes]
rs10801174	0.90[ASN][1000 genomes]
rs10801175	0.88[ASN][1000 genomes]
rs10921304	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921305	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921308	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10921310	0.90[ASN][1000 genomes]
rs10921312	0.90[ASN][1000 genomes]
rs10921313	0.90[ASN][1000 genomes]
rs11583763	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12086884	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12141392	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12735445	0.97[ASN][1000 genomes]
rs1555555	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1890660	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2181408	0.90[ASN][1000 genomes]
rs2275444	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2370079	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2370081	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3753948	0.93[ASN][1000 genomes]
rs3806351	0.81[ASN][1000 genomes]
rs3818865	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820417	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3945872	0.96[ASN][1000 genomes]
rs4657840	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657842	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657843	0.92[ASN][1000 genomes]
rs4657845	0.90[ASN][1000 genomes]
rs4657846	0.81[ASN][1000 genomes]
rs4657847	0.81[ASN][1000 genomes]
rs4658079	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6663431	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6665069	0.89[ASN][1000 genomes]
rs6671237	0.88[ASN][1000 genomes]
rs6672649	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6676322	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676416	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692342	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692805	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6703727	0.89[ASN][1000 genomes]
rs7534257	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7542466	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7547615	0.90[ASN][1000 genomes]
rs7553247	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs912070	0.90[ASN][1000 genomes]
rs912071	0.88[ASN][1000 genomes]
rs9427838	0.94[ASN][1000 genomes]
rs9783104	0.90[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192963800-193012400	Weak transcription	NHEK	skin
2	chr1:192963800-193019600	Weak transcription	Ovary	ovary
3	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:192983000-193017800	Weak transcription	HSMMtube	muscle
9	chr1:192983200-193012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:192983200-193018000	Weak transcription	Pancreas	Pancrea
11	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
12	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
13	chr1:192984200-193026600	Weak transcription	NHLF	lung
14	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
15	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:192986200-193012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:192987000-193009200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
19	chr1:192988600-193008400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:192988800-193012600	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:192989800-193012600	Weak transcription	Spleen	Spleen
22	chr1:192990800-193012800	Weak transcription	Fetal Brain Female	brain
23	chr1:192991200-193014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:192991400-193012600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:192991400-193018000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:192991600-193009600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:192991600-193018000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:192991600-193018000	Weak transcription	Colonic Mucosa	Colon
29	chr1:192991800-193012600	Weak transcription	Thymus	Thymus
30	chr1:192991800-193015400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:192992800-193012600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:192993200-193014400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:192993400-193017800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:192994800-193012400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:192994800-193012600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:192994800-193018000	Weak transcription	Lung	lung
37	chr1:192995200-193011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:192995200-193011600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:192995200-193012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:192995600-193012400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:192995800-193012600	Weak transcription	Primary T cells from cord blood	blood
42	chr1:192996000-193008800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:192996000-193012600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:192996000-193018400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:192996200-193011400	Weak transcription	Placenta	Placenta
46	chr1:192996200-193012600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:192996200-193017600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:192996400-193012600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:192997000-193007800	Weak transcription	Primary B cells from cord blood	blood
50	chr1:192997000-193012600	Weak transcription	Left Ventricle	heart

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