Variant report

Variant	rs34031421
Chromosome Location	chr7:12808251-12808252
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12726182..12729102-chr7:12805599..12808937,3	K562	blood:
2	chr7:12807281..12809251-chr7:12830118..12832463,2	K562	blood:
3	chr7:12750130..12753883-chr7:12807710..12810536,3	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10231345	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10246154	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10260162	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10950414	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13222667	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17617087	0.86[AMR][1000 genomes]
rs17617404	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17673790	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2078541	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177677	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34473739	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34630888	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35702306	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56021252	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6974793	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726878	0.95[ASN][1000 genomes]
rs7796407	0.94[ASN][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2763623	chr7:12777205-12813460	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv464381	chr7:12777308-12826398	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv470077	chr7:12777308-12826398	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv606234	chr7:12777308-12826398	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv606236	chr7:12791487-12846898	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12797200-12808800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:12798000-12808600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:12801800-12809200	Weak transcription	HUVEC	blood vessel
4	chr7:12802000-12810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:12804400-12809200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:12804600-12810000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:12804800-12809000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12804800-12809200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:12804800-12809800	Weak transcription	K562	blood
10	chr7:12805000-12809200	Weak transcription	Brain Germinal Matrix	brain
11	chr7:12805000-12810000	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:12805600-12810800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:12805800-12808800	Weak transcription	Osteobl	bone
14	chr7:12805800-12809400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:12806000-12808600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:12806000-12808800	Weak transcription	NHDF-Ad	bronchial
17	chr7:12806400-12808400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:12806400-12809600	Weak transcription	Psoas Muscle	Psoas
19	chr7:12806600-12809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:12806600-12809400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:12807800-12808400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:12807800-12810000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:12807800-12811600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:12808000-12808400	Weak transcription	HSMMtube	muscle
25	chr7:12808000-12809200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:12808000-12811400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:12808000-12811600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:12808000-12812000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:12808200-12808400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:12808200-12809800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:12808200-12811400	Enhancers	HSMM	muscle

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