Variant report

Variant	rs757193
Chromosome Location	chr7:111828164-111828165
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	chr7:111825703..111828639-chr7:111855708..111857672,2	K562	blood:
2	chr7:111827933..111830797-chr7:111833168..111837325,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10232440	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10233086	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10250322	0.93[AFR][1000 genomes]
rs10269050	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10953707	0.91[ASN][1000 genomes]
rs1154953	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17492961	0.90[JPT][hapmap]
rs2107116	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2729532	0.98[ASN][1000 genomes]
rs2729533	0.98[ASN][1000 genomes]
rs2729539	0.96[ASN][1000 genomes]
rs2729557	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2729559	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4727765	0.81[ASN][1000 genomes]
rs4730513	0.91[ASN][1000 genomes]
rs4730522	0.81[ASN][1000 genomes]
rs62473136	0.81[ASN][1000 genomes]
rs6947391	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6971586	0.81[ASN][1000 genomes]
rs6971683	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972306	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7790943	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7792170	0.91[ASN][1000 genomes]
rs7792614	0.88[ASN][1000 genomes]
rs7795136	0.91[ASN][1000 genomes]
rs7810513	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	18 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	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
2	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:111820800-111831200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:111823200-111828400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
7	chr7:111825000-111832600	Enhancers	Brain Hippocampus Middle	brain
8	chr7:111825400-111829600	Enhancers	Brain Anterior Caudate	brain
9	chr7:111825800-111829200	Enhancers	Fetal Heart	heart
10	chr7:111826000-111830400	Weak transcription	HepG2	liver
11	chr7:111826000-111830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:111826000-111839000	Weak transcription	NHLF	lung
13	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
14	chr7:111826200-111828600	Weak transcription	Right Atrium	heart
15	chr7:111826200-111830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:111826200-111830800	Weak transcription	Adipose Nuclei	Adipose
17	chr7:111826200-111831000	Weak transcription	Liver	Liver
18	chr7:111826200-111831200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:111826200-111831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:111826200-111832400	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:111826200-111832800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:111826400-111828600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:111826400-111828600	Weak transcription	Psoas Muscle	Psoas
24	chr7:111826400-111830200	Weak transcription	Lung	lung
25	chr7:111826400-111830200	Weak transcription	Right Ventricle	heart
26	chr7:111826400-111830400	Weak transcription	Left Ventricle	heart
27	chr7:111826600-111829800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:111826800-111828600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:111826800-111830000	Weak transcription	NHEK	skin
30	chr7:111826800-111830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:111826800-111831400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:111827000-111837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:111827600-111828200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:111827600-111828800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:111827600-111832000	Enhancers	Ovary	ovary
36	chr7:111827600-111832200	Weak transcription	A549	lung
37	chr7:111827800-111828800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:111827800-111835600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:111828000-111828400	Weak transcription	Brain Angular Gyrus	brain
40	chr7:111828000-111828400	Weak transcription	Brain Cingulate Gyrus	brain

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