Variant report

Variant	rs2949336
Chromosome Location	chr7:101389065-101389066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101385593..101388435-chr7:101388835..101390929,3	K562	blood:
2	chr7:101383707..101389205-chr7:101455835..101460728,14	MCF-7	breast:
3	chr7:101385593..101388435-chr7:101388835..101390401,2	K562	blood:
4	chr7:101375406..101379067-chr7:101385960..101390621,6	MCF-7	breast:
5	chr7:101384444..101389414-chr7:101389757..101394090,5	MCF-7	breast:
6	chr7:101388011..101389588-chr7:101391930..101394914,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10228981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247290	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258318	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11975225	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977362	0.87[ASN][1000 genomes]
rs11977381	0.87[ASN][1000 genomes]
rs11984246	0.87[ASN][1000 genomes]
rs17135758	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28416662	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28419515	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906725	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906726	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906727	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906728	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906729	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906730	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906731	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906736	0.96[ASN][1000 genomes]
rs2906737	0.89[ASN][1000 genomes]
rs2906738	0.93[ASN][1000 genomes]
rs2906739	0.93[ASN][1000 genomes]
rs2949324	0.93[ASN][1000 genomes]
rs2949325	0.93[ASN][1000 genomes]
rs2949326	0.93[ASN][1000 genomes]
rs2949327	0.93[ASN][1000 genomes]
rs2949329	0.96[ASN][1000 genomes]
rs2949332	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949333	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949334	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949335	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970475	0.93[ASN][1000 genomes]
rs2970476	0.93[ASN][1000 genomes]
rs2970481	1.00[ASN][1000 genomes]
rs2970484	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970485	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970486	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970487	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970488	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970490	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970491	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354243	0.87[ASN][1000 genomes]
rs56024574	0.87[ASN][1000 genomes]
rs56257366	0.87[ASN][1000 genomes]
rs57730474	0.93[ASN][1000 genomes]
rs6975182	0.85[ASN][1000 genomes]
rs73400071	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691113	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9691915	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101387200-101391400	Weak transcription	Ovary	ovary
2	chr7:101387400-101389600	Weak transcription	Spleen	Spleen
3	chr7:101387400-101390600	Weak transcription	Fetal Kidney	kidney
4	chr7:101387400-101390800	Weak transcription	Fetal Lung	lung
5	chr7:101387400-101397600	Weak transcription	Right Atrium	heart
6	chr7:101387600-101390600	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:101387600-101390800	Weak transcription	Pancreas	Pancrea
8	chr7:101387600-101391000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:101387600-101391400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:101387600-101391400	Enhancers	Fetal Thymus	thymus
11	chr7:101387800-101390800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:101388000-101389400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:101388000-101389400	Enhancers	GM12878-XiMat	blood
14	chr7:101388000-101389600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:101388000-101390600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:101388000-101390800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:101388000-101390800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:101388000-101390800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:101388000-101390800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:101388000-101391000	Weak transcription	A549	lung
21	chr7:101388200-101389200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:101388200-101389200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:101388200-101389400	Weak transcription	Primary B cells from cord blood	blood
24	chr7:101388200-101389400	Weak transcription	Hela-S3	cervix
25	chr7:101388200-101389400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:101388200-101389600	Weak transcription	Dnd41	blood
27	chr7:101388200-101390800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:101388200-101390800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:101388600-101390800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:101388600-101390800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:101388800-101389800	Enhancers	K562	blood

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