Variant report

Variant	rs34248312
Chromosome Location	chr7:70064016-70064017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12698911	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13236715	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13239236	0.87[EUR][1000 genomes]
rs17141812	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1859530	0.96[EUR][1000 genomes]
rs34164699	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34389950	0.96[EUR][1000 genomes]
rs34520347	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34590184	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34793297	0.85[AMR][1000 genomes]
rs34852970	0.96[EUR][1000 genomes]
rs34873775	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34986615	0.96[EUR][1000 genomes]
rs35271487	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35307540	0.96[EUR][1000 genomes]
rs35771254	0.86[EUR][1000 genomes]
rs35814828	0.82[EUR][1000 genomes]
rs35854332	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35861509	0.96[EUR][1000 genomes]
rs35885390	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35996491	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv522876	chr7:70050442-70071979	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70060400-70064600	Active TSS	Brain Anterior Caudate	brain
2	chr7:70061600-70069200	Weak transcription	Ovary	ovary
3	chr7:70061800-70064200	Weak transcription	Gastric	stomach
4	chr7:70061800-70064400	Weak transcription	Colonic Mucosa	Colon
5	chr7:70061800-70069200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:70061800-70079400	Weak transcription	Psoas Muscle	Psoas
7	chr7:70062400-70065400	Weak transcription	Fetal Stomach	stomach
8	chr7:70062600-70065800	Enhancers	HMEC	breast
9	chr7:70062800-70064400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70063000-70064600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:70063000-70065200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:70063000-70065800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:70063200-70064600	Weak transcription	Esophagus	oesophagus
14	chr7:70063200-70065800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:70063200-70066600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:70063400-70064800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:70063400-70065200	Enhancers	Fetal Intestine Large	intestine
18	chr7:70063600-70064400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:70063600-70065200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:70063800-70065000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:70063800-70065200	Enhancers	Fetal Intestine Small	intestine
22	chr7:70063800-70065800	Enhancers	Stomach Mucosa	stomach
23	chr7:70063800-70066000	Enhancers	NHEK	skin
24	chr7:70064000-70064200	Flanking Active TSS	Liver	Liver

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