Variant report

Variant	rs6974004
Chromosome Location	chr7:69215184-69215185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1008379	0.84[ASN][1000 genomes]
rs10085775	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014382	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10237145	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765886	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12333508	0.92[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	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13236841	0.89[ASN][1000 genomes]
rs1468588	0.90[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210598	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210600	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210603	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159679	0.84[ASN][1000 genomes]
rs2253711	0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes]
rs2533432	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2533434	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533440	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533446	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533447	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533449	0.90[EUR][1000 genomes]
rs2533456	0.82[AMR][1000 genomes]
rs2851485	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851488	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851500	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851504	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851509	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851512	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851517	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2903097	0.83[ASN][1000 genomes]
rs34249708	0.83[ASN][1000 genomes]
rs35322474	0.82[ASN][1000 genomes]
rs4717520	0.82[EUR][1000 genomes]
rs4717521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521259	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532820	0.80[EUR][1000 genomes]
rs563740	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576293	0.81[EUR][1000 genomes]
rs585282	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs588004	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590609	0.81[EUR][1000 genomes]
rs593063	0.81[EUR][1000 genomes]
rs595681	0.81[JPT][hapmap]
rs60739014	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs608796	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610930	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs611052	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs611573	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624626	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460528	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs649200	0.80[EUR][1000 genomes]
rs674865	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6955815	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957302	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6959766	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963101	0.83[ASN][1000 genomes]
rs720056	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs763759	0.92[ASN][1000 genomes]
rs7781403	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7793984	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7801117	0.83[JPT][hapmap]
rs7808773	0.84[ASN][1000 genomes]
rs917616	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9332399	0.83[JPT][hapmap]
rs9638575	0.91[ASN][1000 genomes]
rs9692258	0.82[AMR][1000 genomes]
rs981291	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs988282	0.92[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69205200-69221000	Weak transcription	Fetal Brain Male	brain
2	chr7:69205200-69221000	Weak transcription	Right Ventricle	heart
3	chr7:69205400-69217000	Weak transcription	Right Atrium	heart
4	chr7:69206000-69217000	Weak transcription	Fetal Brain Female	brain
5	chr7:69210200-69219800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:69212400-69217000	Weak transcription	Left Ventricle	heart
7	chr7:69213000-69215200	Enhancers	Fetal Lung	lung
8	chr7:69213000-69215800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:69213200-69215200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:69213200-69215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:69213400-69215200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:69213400-69215400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:69213400-69215800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:69213400-69216400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:69213600-69215200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:69213600-69215200	Enhancers	Brain Germinal Matrix	brain
17	chr7:69213600-69215400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:69213800-69215200	Enhancers	HSMM	muscle
19	chr7:69213800-69215600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:69213800-69217400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:69213800-69219400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:69214000-69215200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:69214000-69215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:69214000-69215200	Enhancers	Placenta	Placenta
25	chr7:69214000-69216000	Enhancers	Brain Anterior Caudate	brain
26	chr7:69214000-69216000	Enhancers	Ovary	ovary
27	chr7:69214000-69221000	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:69214200-69215200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:69214200-69215800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:69214200-69216000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:69214200-69216000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:69214200-69216600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:69214400-69215200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:69214400-69215200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:69214400-69215400	Enhancers	Fetal Stomach	stomach
36	chr7:69214400-69215800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:69214600-69215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:69214600-69215200	Flanking Active TSS	HSMMtube	muscle
39	chr7:69214600-69217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:69214600-69217200	Weak transcription	Thymus	Thymus
41	chr7:69214600-69218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:69214600-69219800	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:69214800-69215400	Enhancers	GM12878-XiMat	blood
44	chr7:69214800-69215800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:69214800-69217000	Weak transcription	Fetal Thymus	thymus
46	chr7:69214800-69221000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:69214800-69221000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:69214800-69223000	Weak transcription	NH-A	brain
49	chr7:69215000-69216200	Weak transcription	Fetal Muscle Leg	muscle

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