Variant report

Variant	rs11760753
Chromosome Location	chr7:69925030-69925031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10950202	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950203	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514670	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766624	0.89[ASN][1000 genomes]
rs11767563	0.89[ASN][1000 genomes]
rs11769831	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11771970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673085	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55827919	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56107513	0.87[ASN][1000 genomes]
rs56183636	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335297	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374900	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57139438	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57489549	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58707405	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319470	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61171607	0.92[ASN][1000 genomes]
rs66539368	0.84[ASN][1000 genomes]
rs6946732	0.97[ASN][1000 genomes]
rs6970184	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970937	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175903	0.92[ASN][1000 genomes]
rs73175910	0.97[ASN][1000 genomes]
rs73175915	0.97[ASN][1000 genomes]
rs73175921	0.97[ASN][1000 genomes]
rs73175928	0.97[ASN][1000 genomes]
rs73175930	0.92[ASN][1000 genomes]
rs73175942	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175948	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175955	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175957	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795355	0.97[ASN][1000 genomes]
rs7797273	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888338	chr7:69860713-69952187	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv888339	chr7:69879914-69952187	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11760753	BCL7B	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:69922000-69925200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:69922600-69925200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:69922800-69926600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:69923200-69928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:69923200-69939800	Weak transcription	Right Ventricle	heart
8	chr7:69923400-69928000	Weak transcription	Fetal Kidney	kidney
9	chr7:69923400-69936800	Weak transcription	Fetal Brain Female	brain
10	chr7:69923600-69946600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:69924000-69928000	Weak transcription	Fetal Lung	lung
12	chr7:69924000-69928400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:69924000-69935400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:69924000-69943200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:69924200-69932000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:69924200-69938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:69924600-69925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:69924600-69928400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:69924800-69925200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:69924800-69925800	Enhancers	Esophagus	oesophagus
21	chr7:69924800-69928000	Weak transcription	Fetal Heart	heart
22	chr7:69924800-69935400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:69924800-69942400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:69925000-69925200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:69925000-69925200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:69925000-69928000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:69925000-69928000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:69925000-69928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:69925000-69931800	Weak transcription	NHEK	skin
30	chr7:69925000-69936800	Weak transcription	Fetal Stomach	stomach

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