Variant report

Variant	rs2533440
Chromosome Location	chr7:69109266-69109267
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	chr7:69108034..69110194-chr7:69113458..69115116,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10085775	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1014382	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10237145	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10241485	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11765886	0.83[ASN][1000 genomes]
rs11983891	0.82[EUR][1000 genomes]
rs12333508	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531914	0.83[ASN][1000 genomes]
rs13232095	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1468588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058395	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2098116	0.82[EUR][1000 genomes]
rs210598	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs210600	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210603	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253711	0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533432	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533434	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2533441	0.82[EUR][1000 genomes]
rs2533442	0.82[EUR][1000 genomes]
rs2533444	0.82[EUR][1000 genomes]
rs2533446	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533447	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533448	0.82[EUR][1000 genomes]
rs2533449	0.90[EUR][1000 genomes]
rs2533451	0.82[EUR][1000 genomes]
rs2533452	0.82[EUR][1000 genomes]
rs2533456	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851485	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851488	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851489	0.81[EUR][1000 genomes]
rs2851490	0.82[EUR][1000 genomes]
rs2851497	0.82[EUR][1000 genomes]
rs2851498	0.81[EUR][1000 genomes]
rs2851500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851501	0.82[EUR][1000 genomes]
rs2851503	0.82[EUR][1000 genomes]
rs2851504	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851506	0.82[EUR][1000 genomes]
rs2851507	0.82[EUR][1000 genomes]
rs2851508	0.82[EUR][1000 genomes]
rs2851509	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851510	0.82[EUR][1000 genomes]
rs2851511	0.82[EUR][1000 genomes]
rs2851512	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851517	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3886905	0.82[EUR][1000 genomes]
rs41851	0.83[ASN][1000 genomes]
rs41855	0.83[ASN][1000 genomes]
rs41858	0.83[ASN][1000 genomes]
rs4717521	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5005279	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs521259	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs563740	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585282	0.83[JPT][hapmap]
rs588004	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs595681	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs60739014	0.83[ASN][1000 genomes]
rs608796	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs610930	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs611052	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61135042	0.82[EUR][1000 genomes]
rs611573	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622767	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs624626	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460523	0.82[EUR][1000 genomes]
rs674865	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6955815	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6957302	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6959766	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6974004	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720056	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758680	0.80[AMR][1000 genomes]
rs7781403	0.83[ASN][1000 genomes]
rs7793984	0.85[ASN][1000 genomes]
rs7801117	0.83[JPT][hapmap]
rs917616	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9332399	0.83[JPT][hapmap]
rs9692258	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs981291	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988282	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69101200-69110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:69104600-69114200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:69105400-69111200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:69106200-69115600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:69106200-69119000	Weak transcription	Brain Substantia Nigra	brain
6	chr7:69106200-69121600	Weak transcription	Fetal Kidney	kidney
7	chr7:69106400-69109400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:69106400-69110600	Weak transcription	Fetal Brain Male	brain
9	chr7:69106400-69110800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:69106400-69111200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69106400-69114000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:69106400-69114200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:69106600-69110200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:69107000-69110800	Enhancers	Fetal Intestine Small	intestine
15	chr7:69107200-69109600	Enhancers	Fetal Intestine Large	intestine
16	chr7:69107400-69109400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:69107600-69113200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:69107800-69109400	Enhancers	Fetal Lung	lung
19	chr7:69107800-69109800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:69107800-69110000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:69108000-69109400	Enhancers	Brain Germinal Matrix	brain
22	chr7:69108000-69109800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:69108000-69109800	Enhancers	Adipose Nuclei	Adipose
24	chr7:69108200-69109400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:69108200-69109400	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:69108200-69109800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr7:69108200-69111200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:69108200-69115600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:69108200-69118000	Weak transcription	Lung	lung
30	chr7:69108400-69109400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:69108800-69109400	Enhancers	Fetal Heart	heart
32	chr7:69108800-69109600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:69108800-69109800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:69108800-69110000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:69108800-69110600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:69108800-69111400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:69109000-69109400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:69109000-69109400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:69109000-69109400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:69109000-69109400	Enhancers	Fetal Brain Female	brain
41	chr7:69109000-69109400	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:69109000-69109800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:69109000-69110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:69109000-69110400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:69109000-69115800	Weak transcription	Left Ventricle	heart
46	chr7:69109200-69110000	Weak transcription	Ovary	ovary
47	chr7:69109200-69110400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:69109200-69110400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:69109200-69110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:69109200-69111000	Weak transcription	Brain Hippocampus Middle	brain

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