Variant report

Variant	rs59918378
Chromosome Location	chr1:214800600-214800601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214796160..214799538-chr1:214799766..214802874,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10494983	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10494984	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10864111	0.84[EUR][1000 genomes]
rs11120354	0.84[EUR][1000 genomes]
rs11120355	0.84[EUR][1000 genomes]
rs11120372	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805402	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12058704	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12060367	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12067133	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12071057	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12081395	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12096879	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12097817	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12097854	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12404854	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12405890	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12405995	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12408129	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12408153	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12408289	0.81[EUR][1000 genomes]
rs12409422	0.81[EUR][1000 genomes]
rs12410075	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17023274	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17023275	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17023278	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17023282	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17023284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023293	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17023299	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17023338	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17023380	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17023384	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2070066	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2280049	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292378	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748692	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3748695	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3748696	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3748698	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3790646	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3790647	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3790648	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3790649	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3795514	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3795516	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795517	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795518	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795519	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795520	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795522	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795523	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795524	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs41303281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58247244	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58724390	0.97[AMR][1000 genomes]
rs60944459	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61546198	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6669573	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
3	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:214782000-214803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:214783200-214817800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
10	chr1:214784600-214834000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:214784800-214803600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:214784800-214807400	Weak transcription	Fetal Brain Female	brain
13	chr1:214785600-214819400	Strong transcription	K562	blood
14	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
15	chr1:214785800-214800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:214786600-214833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:214786800-214805200	Strong transcription	Dnd41	blood
20	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:214788000-214803800	Weak transcription	Placenta	Placenta
23	chr1:214788000-214810400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:214788200-214820600	Weak transcription	Fetal Heart	heart
25	chr1:214788600-214803800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
27	chr1:214790800-214800600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:214790800-214805600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:214793000-214807400	Strong transcription	HSMM	muscle
30	chr1:214793600-214810400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:214793800-214810200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:214794400-214833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:214794800-214801800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:214794800-214803800	Weak transcription	Pancreas	Pancrea
35	chr1:214795000-214801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:214795000-214801200	Weak transcription	Fetal Brain Male	brain
37	chr1:214795000-214803200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:214795000-214805200	Weak transcription	Primary T cells from cord blood	blood
39	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:214795600-214803200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:214795600-214803600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:214795600-214807600	Weak transcription	Primary B cells from cord blood	blood
43	chr1:214795800-214803800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:214796000-214801800	Weak transcription	Fetal Intestine Large	intestine
45	chr1:214796000-214803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:214796600-214801800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:214796600-214803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:214796600-214803200	Weak transcription	Fetal Stomach	stomach
49	chr1:214796600-214803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:214796800-214801000	Weak transcription	Osteobl	bone

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