Variant report

Variant	rs4140975
Chromosome Location	chr7:69161000-69161001
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10487944	1.00[AMR][1000 genomes]
rs17140848	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17140871	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17141015	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17350770	1.00[AMR][1000 genomes]
rs17351698	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17353017	0.94[ASN][1000 genomes]
rs17353228	1.00[AMR][1000 genomes]
rs17361399	0.87[ASN][1000 genomes]
rs17361448	0.87[ASN][1000 genomes]
rs17457848	0.89[ASN][1000 genomes]
rs17458533	0.87[ASN][1000 genomes]
rs17459271	0.83[ASN][1000 genomes]
rs17459369	0.83[ASN][1000 genomes]
rs17459903	1.00[AMR][1000 genomes]
rs2191824	0.94[ASN][1000 genomes]
rs2270162	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58305621	1.00[ASN][1000 genomes]
rs58974518	0.83[ASN][1000 genomes]
rs59797025	1.00[ASN][1000 genomes]
rs6460529	0.81[ASN][1000 genomes]
rs6460531	0.84[ASN][1000 genomes]
rs6970097	0.94[ASN][1000 genomes]
rs7790458	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	nsv1034380	chr7:69137914-69171449	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69148400-69166200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:69150200-69161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:69150400-69161000	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:69150600-69162600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:69151000-69161000	Weak transcription	Right Atrium	heart
6	chr7:69151200-69161200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:69151400-69161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:69153400-69161200	Weak transcription	Brain Germinal Matrix	brain
9	chr7:69153400-69161200	Weak transcription	Fetal Brain Female	brain
10	chr7:69153600-69167400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:69156200-69161000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:69156600-69161000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:69156600-69166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:69156800-69166400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:69157000-69161000	Weak transcription	Left Ventricle	heart
16	chr7:69157200-69167800	Weak transcription	Fetal Stomach	stomach
17	chr7:69158200-69161000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:69159200-69161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:69159200-69167800	Weak transcription	Fetal Lung	lung
20	chr7:69159400-69163600	Enhancers	Fetal Thymus	thymus
21	chr7:69160000-69162000	Enhancers	Primary B cells from cord blood	blood
22	chr7:69160000-69162600	Enhancers	Thymus	Thymus
23	chr7:69160000-69162800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:69160200-69162600	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:69160600-69161000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:69160800-69161200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr7:69160800-69161400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:69160800-69161400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:69160800-69161600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:69160800-69161600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:69160800-69161600	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:69160800-69161800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:69160800-69161800	Flanking Active TSS	Dnd41	blood
34	chr7:69160800-69162000	Enhancers	Primary T cells from cord blood	blood
35	chr7:69160800-69162200	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:69160800-69162800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:69161000-69161200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:69161000-69161400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:69161000-69161400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:69161000-69161400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:69161000-69161400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:69161000-69161400	Enhancers	Fetal Muscle Leg	muscle
43	chr7:69161000-69161400	Enhancers	Left Ventricle	heart
44	chr7:69161000-69161600	Enhancers	Adipose Nuclei	Adipose
45	chr7:69161000-69161600	Enhancers	Brain Anterior Caudate	brain
46	chr7:69161000-69161600	Enhancers	Right Atrium	heart
47	chr7:69161000-69161800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:69161000-69161800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:69161000-69161800	Enhancers	Fetal Brain Male	brain
50	chr7:69161000-69162000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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