Variant report

Variant	rs10085775
Chromosome Location	chr7:69222084-69222085
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	chr7:69221100..69223201-chr7:69225003..69226739,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1008379	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1014382	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10237145	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241485	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765886	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12333508	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12698812	0.87[ASN][1000 genomes]
rs12698814	0.87[ASN][1000 genomes]
rs12698815	0.91[ASN][1000 genomes]
rs12698820	0.85[ASN][1000 genomes]
rs13228464	0.82[ASN][1000 genomes]
rs13232095	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13236841	0.89[ASN][1000 genomes]
rs1468588	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17353815	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17458097	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2058395	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210598	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210600	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210603	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159679	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2253711	0.82[AMR][1000 genomes]
rs2533432	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2533434	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533440	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533446	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533447	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533449	0.90[EUR][1000 genomes]
rs2533456	0.81[AMR][1000 genomes]
rs2851485	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851488	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851500	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851504	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851509	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851512	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851517	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2903097	0.83[ASN][1000 genomes]
rs34249708	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35322474	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4717520	0.80[EUR][1000 genomes]
rs4717521	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521259	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563740	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs585282	0.80[EUR][1000 genomes]
rs588004	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590609	0.81[EUR][1000 genomes]
rs60739014	0.98[ASN][1000 genomes]
rs608796	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610930	0.81[EUR][1000 genomes]
rs611052	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs611573	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622767	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624626	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460528	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs674865	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6955815	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957302	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6959766	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963101	0.83[ASN][1000 genomes]
rs6974004	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720056	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs763759	0.92[ASN][1000 genomes]
rs7781403	0.98[ASN][1000 genomes]
rs7793984	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7808773	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs917616	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9638575	0.91[ASN][1000 genomes]
rs9692258	0.81[AMR][1000 genomes]
rs981291	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs988282	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69214800-69223000	Weak transcription	NH-A	brain
2	chr7:69216400-69222800	Weak transcription	GM12878-XiMat	blood
3	chr7:69217000-69224600	Enhancers	Fetal Thymus	thymus
4	chr7:69217200-69224200	Enhancers	Thymus	Thymus
5	chr7:69217400-69237400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:69217600-69223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:69218600-69222800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:69218800-69224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:69219000-69223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:69219000-69223600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:69219200-69223400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:69219200-69233600	Weak transcription	Left Ventricle	heart
13	chr7:69219400-69223600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:69219600-69223000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:69219600-69224400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69219600-69229400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:69219800-69222400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:69219800-69223800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:69220000-69222600	Enhancers	Brain Substantia Nigra	brain
20	chr7:69220000-69227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:69220200-69223400	Enhancers	Brain Germinal Matrix	brain
22	chr7:69220200-69223800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:69220800-69222200	Enhancers	Brain Hippocampus Middle	brain
24	chr7:69220800-69222200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:69220800-69223400	Enhancers	Brain Anterior Caudate	brain
26	chr7:69220800-69224000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:69220800-69224200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:69221000-69222600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:69221000-69223000	Enhancers	Brain Angular Gyrus	brain
30	chr7:69221000-69223400	Enhancers	Colon Smooth Muscle	Colon
31	chr7:69221000-69223600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:69221000-69223600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:69221000-69223800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:69221000-69223800	Enhancers	Fetal Lung	lung
35	chr7:69221000-69224200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:69221200-69223000	Weak transcription	Ovary	ovary
37	chr7:69221400-69222200	Weak transcription	Fetal Brain Female	brain
38	chr7:69221400-69222200	Weak transcription	Fetal Stomach	stomach
39	chr7:69221400-69223000	Weak transcription	Adipose Nuclei	Adipose
40	chr7:69221400-69228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:69221600-69222200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:69221600-69223400	Enhancers	Rectal Smooth Muscle	rectum
43	chr7:69221800-69222200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:69221800-69223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:69221800-69223000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:69221800-69229600	Weak transcription	Fetal Brain Male	brain
47	chr7:69222000-69222400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:69222000-69222400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:69222000-69223000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:69222000-69223800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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