Variant report

Variant	rs2300011
Chromosome Location	chr7:107926487-107926488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107926469..107929433-chr7:108094747..108097499,3	MCF-7	breast:
2	chr7:107925805..107928742-chr7:107940005..107942470,2	K562	blood:
3	chr7:107889555..107891760-chr7:107925759..107927489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10224607	1.00[CEU][hapmap]
rs10257555	1.00[CEU][hapmap]
rs10464622	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10464623	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10464625	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10464626	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10464627	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10464628	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12531903	1.00[CEU][hapmap]
rs12665964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12667098	0.95[EUR][1000 genomes]
rs12667131	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12667151	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12667206	0.95[EUR][1000 genomes]
rs12669568	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12671199	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12672376	0.90[EUR][1000 genomes]
rs12674151	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12674313	0.81[EUR][1000 genomes]
rs1269672	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269674	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269676	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269677	0.81[ASN][1000 genomes]
rs1269678	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269679	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269680	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269681	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269682	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269683	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs16872446	1.00[CEU][hapmap]
rs16872448	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16872449	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16872465	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16872472	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16872481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17155207	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17155253	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17155277	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17155280	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17155301	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17155316	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17155345	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17155362	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17155369	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17155400	1.00[YRI][hapmap]
rs2072320	1.00[EUR][1000 genomes]
rs2272618	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2284279	1.00[CEU][hapmap]
rs2284281	1.00[CEU][hapmap]
rs2299988	1.00[CEU][hapmap]
rs2299998	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2300001	1.00[EUR][1000 genomes]
rs2300004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2300005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2300006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2300007	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2300008	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2300009	0.95[EUR][1000 genomes]
rs2300010	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3750140	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3753152	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3801929	1.00[CEU][hapmap]
rs3817670	1.00[EUR][1000 genomes]
rs4730303	1.00[YRI][hapmap]
rs55772998	1.00[EUR][1000 genomes]
rs58432175	1.00[EUR][1000 genomes]
rs58523350	1.00[EUR][1000 genomes]
rs58799340	1.00[EUR][1000 genomes]
rs59173255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60503554	1.00[EUR][1000 genomes]
rs61040788	1.00[EUR][1000 genomes]
rs61057696	1.00[EUR][1000 genomes]
rs67456250	1.00[EUR][1000 genomes]
rs67592649	1.00[EUR][1000 genomes]
rs67940074	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6956041	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6956711	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6964394	1.00[EUR][1000 genomes]
rs6966259	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6970634	0.86[EUR][1000 genomes]
rs6978117	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73199578	1.00[EUR][1000 genomes]
rs73199594	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199595	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199599	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199600	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73201503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73201504	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73201511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73201512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73201513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73201515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73201518	1.00[ASN][1000 genomes]
rs73414373	1.00[EUR][1000 genomes]
rs73727511	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73727512	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs759549	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7777092	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7777322	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7783944	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7784319	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7784353	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7785181	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7796457	1.00[EUR][1000 genomes]
rs9641405	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107918400-107935000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:107924000-107930200	Weak transcription	Fetal Lung	lung
3	chr7:107924200-107927200	Enhancers	A549	lung
4	chr7:107924200-107929400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:107924200-107939600	Weak transcription	Pancreas	Pancrea
6	chr7:107924600-107926600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:107924800-107926600	Enhancers	HMEC	breast
8	chr7:107924800-107927400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:107925000-107927200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:107925400-107930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:107925600-107930400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:107925800-107930400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:107925800-107930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:107925800-107930600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:107925800-107930600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:107925800-107930600	Weak transcription	Brain Angular Gyrus	brain
18	chr7:107925800-107931200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:107925800-107937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:107926000-107926600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:107926000-107929200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:107926000-107930600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:107926200-107930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:107926200-107930600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:107926200-107931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:107926400-107926800	Weak transcription	NHEK	skin
27	chr7:107926400-107930200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:107926400-107930400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:107926400-107932000	Weak transcription	HUVEC	blood vessel

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