Variant report

Variant	rs7707450
Chromosome Location	chr5:99983278-99983279
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99978017..99980273-chr5:99982713..99984242,2	MCF-7	breast:
2	chr5:99983206..99984911-chr8:101906981..101908614,2	MCF-7	breast:
3	chr5:99983062..99983901-chr5:100090730..100091412,3	MCF-7	breast:
4	chr5:99979051..99981832-chr5:99981912..99985691,4	MCF-7	breast:
5	chr5:99982875..99983980-chr5:100090231..100091716,20	MCF-7	breast:
6	chr5:99982908..99983980-chr5:100090394..100091716,11	MCF-7	breast:
7	chr5:25503170..25504042-chr5:99982844..99983480,2	MCF-7	breast:
8	chr5:99969436..99971759-chr5:99981835..99984130,2	MCF-7	breast:
9	chr5:99983045..99983930-chr5:100117214..100117742,2	MCF-7	breast:
10	chr5:99983166..99984736-chr5:100011479..100013209,2	MCF-7	breast:
11	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212994	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11741121	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12514770	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13160690	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1445173	0.92[ASN][1000 genomes]
rs1962921	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1963072	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1963465	0.87[ASN][1000 genomes]
rs2055617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6595366	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6865946	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6866306	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6879808	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6880868	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6886596	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6888825	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7718146	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7736625	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738040	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
9	nsv882466	chr5:99936090-100029620	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv882467	chr5:99952282-100100157	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv599174	chr5:99959205-100006633	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv882468	chr5:99959205-100029620	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1019974	chr5:99968378-100010033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv968108	chr5:99981282-99993998	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99980200-99983400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:99980200-99985000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:99980400-99983400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:99981800-99983400	Enhancers	Fetal Kidney	kidney
5	chr5:99982800-99985600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:99983000-99983400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:99983000-99983400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr5:99983000-99983400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:99983000-99983400	Flanking Active TSS	K562	blood
10	chr5:99983000-99983600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:99983000-99983600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:99983000-99983600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:99983000-99983600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:99983000-99983600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:99983000-99983800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:99983000-99983800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:99983000-99983800	Flanking Active TSS	Dnd41	blood
18	chr5:99983000-99983800	Enhancers	GM12878-XiMat	blood
19	chr5:99983000-99984000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:99983000-99984000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:99983000-99984000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:99983000-99984000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:99983000-99985400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:99983200-99983400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:99983200-99983400	Enhancers	Fetal Intestine Large	intestine
26	chr5:99983200-99983400	Enhancers	Fetal Thymus	thymus
27	chr5:99983200-99983400	Enhancers	HMEC	breast
28	chr5:99983200-99983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:99983200-99983600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:99983200-99983600	Active TSS	Duodenum Mucosa	Duodenum
31	chr5:99983200-99983600	Enhancers	Placenta	Placenta
32	chr5:99983200-99983600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr5:99983200-99983600	Enhancers	Stomach Mucosa	stomach
34	chr5:99983200-99983600	Flanking Active TSS	A549	lung
35	chr5:99983200-99983600	Flanking Active TSS	Hela-S3	cervix
36	chr5:99983200-99983600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:99983200-99983600	Flanking Active TSS	NHEK	skin
38	chr5:99983200-99983800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:99983200-99983800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:99983200-99984000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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