Variant report

Variant	rs9691113
Chromosome Location	chr7:101384578-101384579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101383707..101389205-chr7:101455835..101460728,14	MCF-7	breast:
2	chr7:101370197..101372685-chr7:101384392..101387047,2	K562	blood:
3	chr7:101383126..101385865-chr7:101398297..101401164,2	MCF-7	breast:
4	chr7:101383858..101388453-chr7:101455921..101461745,10	K562	blood:
5	chr7:101384444..101389414-chr7:101389757..101394090,5	MCF-7	breast:
6	chr7:101358883..101362441-chr7:101383235..101387377,4	MCF-7	breast:
7	chr7:101383224..101388686-chr7:101455921..101460973,10	K562	blood:
8	chr7:101381459..101384895-chr7:101386139..101388176,3	K562	blood:

No data

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	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247290	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258318	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975225	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977362	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11977381	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11984246	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs17135758	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416662	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419515	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906725	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906727	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906728	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906729	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906730	0.96[ASN][1000 genomes]
rs2906731	0.96[ASN][1000 genomes]
rs2906736	0.93[ASN][1000 genomes]
rs2906737	0.86[ASN][1000 genomes]
rs2906738	0.89[ASN][1000 genomes]
rs2906739	0.89[ASN][1000 genomes]
rs2949324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2949325	0.89[ASN][1000 genomes]
rs2949326	0.89[ASN][1000 genomes]
rs2949327	0.89[ASN][1000 genomes]
rs2949329	0.93[ASN][1000 genomes]
rs2949332	0.96[ASN][1000 genomes]
rs2949333	0.96[ASN][1000 genomes]
rs2949334	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949335	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949336	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970475	0.89[ASN][1000 genomes]
rs2970476	0.89[ASN][1000 genomes]
rs2970481	0.96[ASN][1000 genomes]
rs2970484	0.96[ASN][1000 genomes]
rs2970485	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970486	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970487	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970488	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970490	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970491	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970492	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4354243	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs56024574	0.90[ASN][1000 genomes]
rs56257366	0.90[ASN][1000 genomes]
rs57730474	0.89[ASN][1000 genomes]
rs6975182	0.82[ASN][1000 genomes]
rs73400071	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9691915	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101377200-101386600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:101382800-101385000	Enhancers	Stomach Mucosa	stomach
3	chr7:101382800-101386600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:101383000-101386400	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:101383000-101386400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:101383000-101386600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:101383000-101386600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:101383200-101384800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:101383200-101386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:101383200-101386200	Enhancers	Primary T cells from cord blood	blood
11	chr7:101383200-101386400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:101383200-101386600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:101383400-101385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:101383400-101386200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:101383400-101386200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:101383400-101386400	Weak transcription	A549	lung
17	chr7:101383400-101386400	Weak transcription	HMEC	breast
18	chr7:101383400-101386600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:101383400-101386600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:101383400-101386600	Weak transcription	Pancreas	Pancrea
21	chr7:101383400-101386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:101384000-101384600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:101384000-101384600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:101384000-101384600	Enhancers	K562	blood
25	chr7:101384000-101385000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr7:101384000-101385000	Flanking Active TSS	Dnd41	blood
27	chr7:101384000-101386200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:101384000-101386400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:101384000-101386400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:101384200-101384600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:101384200-101384600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr7:101384200-101384800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr7:101384200-101384800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr7:101384200-101384800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:101384200-101384800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:101384200-101384800	Enhancers	Adipose Nuclei	Adipose
37	chr7:101384200-101384800	Enhancers	Colonic Mucosa	Colon
38	chr7:101384200-101384800	Flanking Active TSS	Thymus	Thymus
39	chr7:101384200-101384800	Enhancers	Spleen	Spleen
40	chr7:101384200-101384800	Flanking Active TSS	GM12878-XiMat	blood
41	chr7:101384200-101384800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:101384200-101385000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:101384200-101385000	Flanking Active TSS	Fetal Thymus	thymus
44	chr7:101384200-101385000	Enhancers	Hela-S3	cervix
45	chr7:101384200-101386600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr7:101384200-101386600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:101384400-101384600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:101384400-101384600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr7:101384400-101384600	Enhancers	HUVEC	blood vessel
50	chr7:101384400-101384800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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