Variant report

Variant	rs237430
Chromosome Location	chr1:94020247-94020248
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	chr1:94018925..94022091-chr1:94023784..94027117,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11164950	1.00[EUR][1000 genomes]
rs1593513	0.82[ASN][1000 genomes]
rs1593514	0.82[ASN][1000 genomes]
rs1593515	0.82[ASN][1000 genomes]
rs1863500	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236327	1.00[EUR][1000 genomes]
rs236328	1.00[EUR][1000 genomes]
rs236334	1.00[EUR][1000 genomes]
rs237424	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237426	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237428	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237431	0.85[AMR][1000 genomes]
rs2449377	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493642	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493643	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs2554841	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2624438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2818968	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4475764	0.82[ASN][1000 genomes]
rs57438388	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57440609	0.82[ASN][1000 genomes]
rs57453256	0.82[ASN][1000 genomes]
rs57974365	1.00[EUR][1000 genomes]
rs58430978	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58591926	0.82[ASN][1000 genomes]
rs59039419	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60515224	1.00[EUR][1000 genomes]
rs60717381	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61096581	0.82[ASN][1000 genomes]
rs61231069	0.82[ASN][1000 genomes]
rs6657187	0.82[ASN][1000 genomes]
rs72961357	1.00[EUR][1000 genomes]
rs72961366	1.00[EUR][1000 genomes]
rs72961373	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961379	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961386	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961389	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7547495	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
2	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:94010400-94021800	Weak transcription	Lung	lung
4	chr1:94012800-94024800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:94014000-94025200	Weak transcription	Aorta	Aorta
6	chr1:94014600-94025000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:94016000-94025200	Weak transcription	Ovary	ovary
8	chr1:94016800-94031600	Weak transcription	Fetal Stomach	stomach
9	chr1:94017200-94020400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:94017200-94021400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:94017400-94020400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:94017400-94021000	Enhancers	HepG2	liver
13	chr1:94017600-94020600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:94017600-94020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:94017600-94021000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:94017600-94021000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:94017600-94021000	Enhancers	Fetal Intestine Small	intestine
18	chr1:94017600-94021000	Enhancers	HMEC	breast
19	chr1:94017600-94021000	Enhancers	NH-A	brain
20	chr1:94017600-94021200	Enhancers	Brain Anterior Caudate	brain
21	chr1:94017600-94022000	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:94017800-94020600	Enhancers	Adipose Nuclei	Adipose
23	chr1:94018000-94021400	Enhancers	Primary T cells from cord blood	blood
24	chr1:94018000-94023800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:94018200-94020800	Enhancers	Brain Hippocampus Middle	brain
26	chr1:94018200-94021000	Enhancers	A549	lung
27	chr1:94018400-94024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:94018400-94031600	Weak transcription	Spleen	Spleen
29	chr1:94018600-94020600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:94018600-94021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:94018600-94021600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:94018600-94024600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:94018600-94024800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:94018600-94031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:94018600-94037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:94018800-94021000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:94018800-94021200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:94019000-94020400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:94019000-94020400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:94019000-94020400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:94019000-94020400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:94019000-94020400	Weak transcription	Colonic Mucosa	Colon
43	chr1:94019000-94020400	Weak transcription	Fetal Lung	lung
44	chr1:94019000-94020400	Weak transcription	Fetal Thymus	thymus
45	chr1:94019000-94020400	Weak transcription	Left Ventricle	heart
46	chr1:94019000-94020400	Weak transcription	Pancreas	Pancrea
47	chr1:94019000-94020400	Weak transcription	Psoas Muscle	Psoas
48	chr1:94019000-94020400	Weak transcription	Thymus	Thymus
49	chr1:94019000-94020800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:94019000-94020800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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