Variant report

Variant	rs2949335
Chromosome Location	chr7:101390918-101390919
allele	A/G
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	chr7:101389190..101391058-chr7:101394987..101397297,2	MCF-7	breast:
3	chr7:101389951..101392799-chr7:101396362..101398401,2	MCF-7	breast:
4	chr7:101390607..101392613-chr7:101394079..101396283,2	K562	blood:
5	chr7:101384444..101389414-chr7:101389757..101394090,5	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10228981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247290	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258318	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11975225	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[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	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28416662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28419515	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906725	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906726	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906727	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906728	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906729	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906730	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906731	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	1.00[JPT][hapmap];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	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949333	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949334	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949336	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949337	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[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	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2970484	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970485	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970486	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970487	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970488	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970490	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970491	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970492	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[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	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691113	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9691915	0.87[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101387200-101391400	Weak transcription	Ovary	ovary
2	chr7:101387400-101397600	Weak transcription	Right Atrium	heart
3	chr7:101387600-101391000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:101387600-101391400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:101387600-101391400	Enhancers	Fetal Thymus	thymus
6	chr7:101388000-101391000	Weak transcription	A549	lung
7	chr7:101389200-101391000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:101389400-101391000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:101390000-101391200	Enhancers	GM12878-XiMat	blood
10	chr7:101390600-101391000	Enhancers	Fetal Kidney	kidney
11	chr7:101390600-101391800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr7:101390600-101391800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr7:101390600-101391800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr7:101390800-101391000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:101390800-101391000	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:101390800-101391000	Bivalent Enhancer	Placenta	Placenta
17	chr7:101390800-101391000	Enhancers	Dnd41	blood
18	chr7:101390800-101391200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:101390800-101391200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:101390800-101391200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:101390800-101391200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:101390800-101391200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:101390800-101391600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:101390800-101391600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:101390800-101391600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:101390800-101391800	Enhancers	Fetal Lung	lung
27	chr7:101390800-101397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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