Variant report

Variant	rs6945524
Chromosome Location	chr7:69171921-69171922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1000873	0.85[EUR][1000 genomes]
rs1000874	0.87[EUR][1000 genomes]
rs10085600	0.84[EUR][1000 genomes]
rs10216097	0.90[EUR][1000 genomes]
rs10216186	0.81[EUR][1000 genomes]
rs10229336	0.81[EUR][1000 genomes]
rs10229578	0.87[EUR][1000 genomes]
rs10229588	0.84[EUR][1000 genomes]
rs10230356	0.84[EUR][1000 genomes]
rs10230750	0.84[EUR][1000 genomes]
rs10233869	0.87[EUR][1000 genomes]
rs10234831	0.96[EUR][1000 genomes]
rs10236103	0.84[EUR][1000 genomes]
rs10238307	0.87[EUR][1000 genomes]
rs10239569	0.90[EUR][1000 genomes]
rs10240462	0.84[EUR][1000 genomes]
rs10242206	0.84[EUR][1000 genomes]
rs10243408	0.87[EUR][1000 genomes]
rs10244001	0.84[EUR][1000 genomes]
rs10244128	0.84[EUR][1000 genomes]
rs10244247	0.84[EUR][1000 genomes]
rs10244885	0.80[EUR][1000 genomes]
rs10245690	0.90[EUR][1000 genomes]
rs10245749	0.81[EUR][1000 genomes]
rs10247386	0.84[EUR][1000 genomes]
rs10248237	0.87[EUR][1000 genomes]
rs10254086	0.84[EUR][1000 genomes]
rs10255563	0.84[EUR][1000 genomes]
rs10256512	0.87[EUR][1000 genomes]
rs10256943	0.87[EUR][1000 genomes]
rs10257587	0.87[EUR][1000 genomes]
rs10258846	0.81[EUR][1000 genomes]
rs10261380	0.87[EUR][1000 genomes]
rs10263467	0.84[EUR][1000 genomes]
rs10268729	0.84[EUR][1000 genomes]
rs10269267	0.84[EUR][1000 genomes]
rs10272781	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10274099	0.84[EUR][1000 genomes]
rs10274419	0.90[EUR][1000 genomes]
rs10275112	0.80[EUR][1000 genomes]
rs10275721	0.90[EUR][1000 genomes]
rs10278001	0.81[EUR][1000 genomes]
rs10278978	0.90[EUR][1000 genomes]
rs10279669	0.90[EUR][1000 genomes]
rs10279708	0.84[EUR][1000 genomes]
rs10452705	0.84[EUR][1000 genomes]
rs10487943	0.90[EUR][1000 genomes]
rs11762049	0.87[EUR][1000 genomes]
rs11762487	0.81[EUR][1000 genomes]
rs11764277	0.84[EUR][1000 genomes]
rs11764717	0.84[EUR][1000 genomes]
rs11769033	0.87[EUR][1000 genomes]
rs11769738	0.84[EUR][1000 genomes]
rs11771751	0.87[EUR][1000 genomes]
rs11771899	0.90[EUR][1000 genomes]
rs11772602	0.84[EUR][1000 genomes]
rs11975481	0.84[EUR][1000 genomes]
rs11975506	0.84[EUR][1000 genomes]
rs11979745	0.84[EUR][1000 genomes]
rs17140755	0.87[EUR][1000 genomes]
rs17140759	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17140783	0.87[EUR][1000 genomes]
rs17140817	0.87[EUR][1000 genomes]
rs17140884	0.84[EUR][1000 genomes]
rs17140938	0.90[EUR][1000 genomes]
rs17141032	0.81[EUR][1000 genomes]
rs17350805	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17353920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361825	0.87[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458187	0.85[EUR][1000 genomes]
rs17458713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068718	0.87[EUR][1000 genomes]
rs28393394	0.81[EUR][1000 genomes]
rs28493290	0.87[EUR][1000 genomes]
rs28496072	0.81[EUR][1000 genomes]
rs28502437	0.81[EUR][1000 genomes]
rs28577243	0.84[EUR][1000 genomes]
rs2865804	0.87[EUR][1000 genomes]
rs28812289	0.90[EUR][1000 genomes]
rs34080361	0.87[EUR][1000 genomes]
rs3800979	0.87[EUR][1000 genomes]
rs41379648	0.84[EUR][1000 genomes]
rs4305786	0.84[EUR][1000 genomes]
rs55654955	0.84[EUR][1000 genomes]
rs55756263	0.84[EUR][1000 genomes]
rs55880824	0.84[EUR][1000 genomes]
rs56800568	0.84[EUR][1000 genomes]
rs57493471	0.84[EUR][1000 genomes]
rs58626042	0.84[EUR][1000 genomes]
rs58666988	0.87[EUR][1000 genomes]
rs58863846	0.84[EUR][1000 genomes]
rs61424317	0.84[EUR][1000 genomes]
rs6460525	0.84[EUR][1000 genomes]
rs6947326	0.81[EUR][1000 genomes]
rs6950638	0.87[EUR][1000 genomes]
rs6951770	0.84[EUR][1000 genomes]
rs6958450	0.87[EUR][1000 genomes]
rs6958714	0.81[EUR][1000 genomes]
rs6962237	0.83[EUR][1000 genomes]
rs6962338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967788	0.84[EUR][1000 genomes]
rs6968426	0.81[EUR][1000 genomes]
rs6977472	0.84[EUR][1000 genomes]
rs717266	0.87[EUR][1000 genomes]
rs719294	0.87[EUR][1000 genomes]
rs73154605	0.90[EUR][1000 genomes]
rs73164783	0.85[EUR][1000 genomes]
rs73164795	0.87[EUR][1000 genomes]
rs73166559	0.84[EUR][1000 genomes]
rs73167506	0.87[EUR][1000 genomes]
rs73168739	0.87[EUR][1000 genomes]
rs73168740	0.90[EUR][1000 genomes]
rs73168747	0.81[EUR][1000 genomes]
rs73168758	0.81[EUR][1000 genomes]
rs73168761	0.85[EUR][1000 genomes]
rs73170834	0.84[EUR][1000 genomes]
rs73170852	0.87[EUR][1000 genomes]
rs73170857	0.87[EUR][1000 genomes]
rs73170864	0.87[EUR][1000 genomes]
rs73172903	0.84[EUR][1000 genomes]
rs740946	0.87[EUR][1000 genomes]
rs7777269	0.87[EUR][1000 genomes]
rs7777621	0.87[EUR][1000 genomes]
rs7780835	0.90[EUR][1000 genomes]
rs7781664	0.81[EUR][1000 genomes]
rs7784950	0.90[EUR][1000 genomes]
rs7801209	0.84[EUR][1000 genomes]
rs7810982	0.84[EUR][1000 genomes]
rs917718	0.81[EUR][1000 genomes]
rs917725	0.80[EUR][1000 genomes]
rs9690738	0.81[EUR][1000 genomes]
rs9690769	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69161600-69173400	Weak transcription	Right Atrium	heart
2	chr7:69162000-69186200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:69163600-69174000	Weak transcription	Fetal Thymus	thymus
4	chr7:69166600-69175400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:69168000-69173000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:69168400-69172800	Weak transcription	Dnd41	blood
7	chr7:69168600-69172800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:69168600-69172800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:69168600-69173800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:69168800-69172800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:69168800-69173600	Weak transcription	Brain Germinal Matrix	brain
12	chr7:69169000-69172800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:69169000-69173200	Weak transcription	Fetal Brain Female	brain
14	chr7:69169000-69173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:69169000-69173800	Weak transcription	Fetal Lung	lung
16	chr7:69169200-69172800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:69169200-69173000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:69169200-69173400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:69169200-69173400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:69169200-69173400	Weak transcription	Ovary	ovary
21	chr7:69169200-69173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:69169200-69173800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:69169200-69173800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:69169200-69174000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:69169200-69174000	Weak transcription	GM12878-XiMat	blood
26	chr7:69170400-69172000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:69170400-69172200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:69170400-69172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:69170400-69172600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:69170800-69173000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:69171000-69172000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:69171000-69172400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:69171000-69173200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:69171000-69174000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:69171200-69172000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:69171400-69172000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr7:69171400-69172400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:69171400-69173200	Weak transcription	Fetal Brain Male	brain
39	chr7:69171400-69173600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:69171400-69173800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:69171400-69174000	Weak transcription	Left Ventricle	heart
42	chr7:69171400-69176400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:69171600-69172000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:69171600-69173600	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:69171600-69174000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:69171600-69174600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:69171800-69172000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:69171800-69172000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:69171800-69172000	Enhancers	Psoas Muscle	Psoas

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