Variant report

Variant	rs74101439
Chromosome Location	chr1:93580874-93580875
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	chr1:93579998..93581880-chr1:93596682..93599849,3	K562	blood:
2	chr1:93561194..93562759-chr1:93579663..93581219,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10157785	1.00[EUR][1000 genomes]
rs1054165	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057256	0.82[ASN][1000 genomes]
rs11801977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802421	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805267	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11807404	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12239921	1.00[EUR][1000 genomes]
rs17131715	1.00[EUR][1000 genomes]
rs17131717	1.00[EUR][1000 genomes]
rs1932313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3066510	0.82[AMR][1000 genomes]
rs3171	0.82[ASN][1000 genomes]
rs55940503	1.00[EUR][1000 genomes]
rs55959166	1.00[EUR][1000 genomes]
rs57353954	1.00[EUR][1000 genomes]
rs58770710	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60497651	0.82[ASN][1000 genomes]
rs60517691	1.00[EUR][1000 genomes]
rs60813039	0.82[ASN][1000 genomes]
rs60868033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61671588	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61690932	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541360	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663752	0.82[ASN][1000 genomes]
rs6664190	0.82[ASN][1000 genomes]
rs6675991	0.81[AFR][1000 genomes]
rs6677862	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678465	1.00[EUR][1000 genomes]
rs6688132	1.00[EUR][1000 genomes]
rs6688199	0.82[ASN][1000 genomes]
rs6688513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689867	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6691556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955402	0.82[ASN][1000 genomes]
rs72957300	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961310	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101447	1.00[EUR][1000 genomes]
rs74101453	1.00[EUR][1000 genomes]
rs74101464	1.00[EUR][1000 genomes]
rs7518171	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7530923	1.00[EUR][1000 genomes]
rs7545358	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs754899	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9662414	0.82[AMR][1000 genomes];1.00[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
2	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
4	chr1:93548000-93601800	Weak transcription	NHLF	lung
5	chr1:93548800-93581600	Weak transcription	Small Intestine	intestine
6	chr1:93549000-93582400	Weak transcription	HMEC	breast
7	chr1:93549000-93582800	Weak transcription	NHEK	skin
8	chr1:93555400-93581000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:93559400-93581000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:93560200-93581600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:93563400-93582000	Weak transcription	Esophagus	oesophagus
12	chr1:93564000-93581800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
14	chr1:93568400-93584200	Weak transcription	Fetal Brain Male	brain
15	chr1:93570000-93582200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:93570200-93581600	Weak transcription	Ovary	ovary
17	chr1:93571400-93602200	Weak transcription	Colonic Mucosa	Colon
18	chr1:93571600-93581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:93572400-93599600	Weak transcription	Spleen	Spleen
20	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:93573600-93581000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:93573600-93586000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:93573800-93582000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:93573800-93609000	Strong transcription	Fetal Thymus	thymus
25	chr1:93574200-93581200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:93574200-93581600	Weak transcription	Fetal Brain Female	brain
27	chr1:93574200-93582600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:93574200-93609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:93574600-93581000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:93574600-93584800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:93574600-93585800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:93574600-93609000	Strong transcription	Dnd41	blood
33	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
34	chr1:93575000-93581000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:93575200-93589800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:93575400-93581000	Weak transcription	Gastric	stomach
37	chr1:93575800-93589200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:93576000-93581000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:93576000-93581600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:93576200-93581600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:93576400-93582000	Weak transcription	Hela-S3	cervix
42	chr1:93577200-93592800	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:93577200-93597000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:93577400-93582000	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:93577400-93582200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:93577600-93581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:93577600-93581000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:93577600-93585200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:93577600-93586600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:93577600-93586800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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