Variant report

Variant	rs10247386
Chromosome Location	chr7:69173544-69173545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69171954..69174504-chr7:69181128..69183213,2	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs1000874	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10085600	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10216097	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10216186	0.85[EUR][1000 genomes]
rs10229336	0.85[EUR][1000 genomes]
rs10229578	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229588	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10230356	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10230750	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233869	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10234831	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10236103	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10238307	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10239569	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243408	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244128	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244885	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10245493	0.92[AMR][1000 genomes]
rs10245690	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10245749	0.85[EUR][1000 genomes]
rs10248237	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254086	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10255563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255613	0.92[AMR][1000 genomes]
rs10256512	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256943	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10257587	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10258846	0.85[EUR][1000 genomes]
rs10261380	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10263467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268221	0.92[AMR][1000 genomes]
rs10268457	0.92[AMR][1000 genomes]
rs10268729	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10269267	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10272781	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10274099	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10274419	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275112	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275721	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276664	0.84[AMR][1000 genomes]
rs10278001	0.85[EUR][1000 genomes]
rs10278978	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279669	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs10281575	0.92[AMR][1000 genomes]
rs10281579	0.92[AMR][1000 genomes]
rs10452705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10487943	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10950193	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762049	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11762487	0.85[EUR][1000 genomes]
rs11763426	0.88[EUR][1000 genomes]
rs11764277	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11764717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769033	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11769738	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11770241	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771751	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11771899	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11772602	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11773581	0.92[AMR][1000 genomes]
rs11975481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11979745	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140693	0.92[AMR][1000 genomes]
rs17140755	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17140759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17140783	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17140817	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140884	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140938	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17141032	0.85[EUR][1000 genomes]
rs17353920	0.84[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17458713	0.84[EUR][1000 genomes]
rs2052124	0.84[EUR][1000 genomes]
rs2068718	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393394	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28493290	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28496072	0.85[EUR][1000 genomes]
rs28502437	0.85[EUR][1000 genomes]
rs28577243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2865804	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28812289	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34080361	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3735260	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs3800979	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41379648	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4305786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55654955	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55756263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55847506	0.88[AMR][1000 genomes]
rs55880824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56405888	0.88[EUR][1000 genomes]
rs56800568	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57493471	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58626042	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58666988	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58863846	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61370051	0.82[EUR][1000 genomes]
rs61424317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61692535	0.92[AMR][1000 genomes]
rs6460525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945524	0.84[EUR][1000 genomes]
rs6947326	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6950638	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6951770	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6958450	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6958714	0.85[EUR][1000 genomes]
rs6962237	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6962338	0.84[EUR][1000 genomes]
rs6967788	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6968426	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6975211	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6977472	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6980305	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs717266	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs719294	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73154605	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73164795	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73166559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73167506	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73168739	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73168740	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73168747	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73168758	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170852	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170857	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73170864	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73172903	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs740946	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7777243	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777269	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777621	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7780835	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7781664	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7784950	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7801209	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810982	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs917718	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs917725	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9690738	0.85[EUR][1000 genomes]
rs9690769	0.85[EUR][1000 genomes];0.83[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10247386	TNFRSF6B	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69162000-69186200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69163600-69174000	Weak transcription	Fetal Thymus	thymus
3	chr7:69166600-69175400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:69168600-69173800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:69168800-69173600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:69169000-69173800	Weak transcription	Fetal Lung	lung
7	chr7:69169200-69173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:69169200-69173800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:69169200-69173800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:69169200-69174000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:69169200-69174000	Weak transcription	GM12878-XiMat	blood
12	chr7:69171000-69174000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:69171400-69173600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:69171400-69173800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:69171400-69174000	Weak transcription	Left Ventricle	heart
16	chr7:69171400-69176400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:69171600-69173600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:69171600-69174000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:69171600-69174600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:69172000-69175400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:69172000-69180000	Weak transcription	Psoas Muscle	Psoas
22	chr7:69172000-69180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:69172200-69173600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:69172200-69174000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:69172200-69176200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:69172400-69174000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:69172400-69176800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:69172600-69174000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:69172800-69174400	Enhancers	Brain Anterior Caudate	brain
30	chr7:69172800-69174400	Enhancers	Brain Substantia Nigra	brain
31	chr7:69172800-69174400	Enhancers	Dnd41	blood
32	chr7:69172800-69174600	Enhancers	Brain Angular Gyrus	brain
33	chr7:69172800-69174600	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:69172800-69174600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:69173000-69174000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:69173000-69175000	Enhancers	Brain Hippocampus Middle	brain
37	chr7:69173000-69176600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:69173200-69174000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:69173200-69174800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:69173200-69176000	Enhancers	Fetal Brain Male	brain
41	chr7:69173200-69176400	Enhancers	Fetal Brain Female	brain
42	chr7:69173400-69174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:69173400-69174200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:69173400-69174400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:69173400-69174600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:69173400-69174600	Enhancers	Right Atrium	heart
47	chr7:69173400-69175000	Enhancers	Ovary	ovary
48	chr7:69173400-69175800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:69173400-69175800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:69173400-69176800	Enhancers	HUES64 Cell Line	embryonic stem cell

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