Variant report

Variant	rs74076689
Chromosome Location	chr1:62957185-62957186
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	chr1:62956362..62957936-chr1:62958074..62960377,2	K562	blood:
2	chr1:62952987..62955181-chr1:62956845..62959940,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10493323	1.00[EUR][1000 genomes]
rs10493325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1168121	1.00[EUR][1000 genomes]
rs12563308	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12563863	1.00[EUR][1000 genomes]
rs12565895	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12566265	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1408480	1.00[EUR][1000 genomes]
rs17123615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123688	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17123694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17123705	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17123712	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17123721	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17123725	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17123740	1.00[EUR][1000 genomes]
rs17123743	1.00[EUR][1000 genomes]
rs2016736	1.00[EUR][1000 genomes]
rs34898550	1.00[EUR][1000 genomes]
rs36157139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3737890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55709519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094630	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56193814	1.00[EUR][1000 genomes]
rs56792530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57022388	1.00[EUR][1000 genomes]
rs59505425	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59662235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59816054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60339595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610248	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61308091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61501887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74076653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74076654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74076668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076695	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076699	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076907	1.00[EUR][1000 genomes]
rs74076909	1.00[EUR][1000 genomes]
rs74078610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74078643	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74078661	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
4	chr1:62916200-62960000	Weak transcription	Spleen	Spleen
5	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
7	chr1:62919000-62959200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
9	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:62922600-62982000	Weak transcription	A549	lung
11	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
12	chr1:62934400-62981200	Weak transcription	Stomach Mucosa	stomach
13	chr1:62937400-62957200	Weak transcription	Colonic Mucosa	Colon
14	chr1:62937400-62960000	Weak transcription	Pancreas	Pancrea
15	chr1:62938000-62960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:62938000-62966600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:62938800-62973800	Weak transcription	Esophagus	oesophagus
18	chr1:62939200-62978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:62939600-62999800	Weak transcription	Gastric	stomach
20	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
21	chr1:62939800-62961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
24	chr1:62941000-62959200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:62941600-62959200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:62941600-62959800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:62941600-62975400	Weak transcription	NHLF	lung
29	chr1:62941600-62978600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:62941600-62981400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
32	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:62941800-62972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:62941800-62978400	Weak transcription	NHEK	skin
35	chr1:62941800-62982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:62941800-62984600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
38	chr1:62942000-62959200	Weak transcription	Fetal Kidney	kidney
39	chr1:62943000-62959800	Weak transcription	HUVEC	blood vessel
40	chr1:62943400-62959800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:62943600-62979400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:62945400-62962800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:62947200-62970000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:62947200-62978600	Weak transcription	Ovary	ovary
45	chr1:62947400-62970000	Weak transcription	Brain Anterior Caudate	brain
46	chr1:62949200-62962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:62950200-62962200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:62950600-62959200	Weak transcription	Primary B cells from cord blood	blood
49	chr1:62951200-62958800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:62951200-62980400	Weak transcription	Primary monocytes fromperipheralblood	blood

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