Variant report

Variant	rs34648110
Chromosome Location	chr3:48194667-48194668
allele	AC/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47886059..47888600-chr3:48194034..48195551,2	K562	blood:
2	chr3:48194519..48197734-chr3:48199782..48202977,3	K562	blood:
3	chr3:47865781..47868282-chr3:48191820..48194730,2	K562	blood:

Variant related genes	Relation type
ENSG00000132153	Chromatin interaction
ENSG00000235627	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11130157	0.90[EUR][1000 genomes]
rs11711766	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12493256	0.88[EUR][1000 genomes]
rs12494304	0.88[EUR][1000 genomes]
rs12494396	0.82[EUR][1000 genomes]
rs12495221	0.88[EUR][1000 genomes]
rs12496784	0.90[EUR][1000 genomes]
rs34422222	0.88[EUR][1000 genomes]
rs35142214	0.90[EUR][1000 genomes]
rs4858892	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262998	0.87[EUR][1000 genomes]
rs62263001	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6442105	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6442106	0.90[EUR][1000 genomes]
rs6442107	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442108	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6442109	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6766754	0.88[EUR][1000 genomes]
rs6771787	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6771889	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6775114	0.86[EUR][1000 genomes]
rs6797587	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6800730	0.87[EUR][1000 genomes]
rs7374376	0.86[EUR][1000 genomes]
rs7429594	0.87[EUR][1000 genomes]
rs7431293	0.90[EUR][1000 genomes]
rs7617773	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9822496	0.88[EUR][1000 genomes]
rs9832957	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48182200-48198400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:48182200-48199400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:48184200-48196400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:48186000-48200200	Weak transcription	Spleen	Spleen
5	chr3:48191600-48194800	Enhancers	Fetal Muscle Trunk	muscle
6	chr3:48192600-48195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:48192600-48200200	Weak transcription	Brain Germinal Matrix	brain
8	chr3:48193000-48196200	Weak transcription	NH-A	brain
9	chr3:48193000-48198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:48193000-48198400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:48193000-48198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:48193000-48198400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:48193000-48198800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:48193000-48198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:48193000-48198800	Weak transcription	Fetal Lung	lung
16	chr3:48193000-48199200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:48193000-48199800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:48193000-48205200	Weak transcription	Brain Anterior Caudate	brain
19	chr3:48193000-48205400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:48193000-48228400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:48193200-48197600	Weak transcription	Fetal Thymus	thymus
22	chr3:48193200-48197800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:48193200-48200200	Weak transcription	Ovary	ovary
24	chr3:48193200-48205200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:48193200-48206800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:48193400-48196000	Weak transcription	NHEK	skin
27	chr3:48193400-48199200	Weak transcription	Fetal Stomach	stomach
28	chr3:48193400-48206800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:48193400-48210400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:48193600-48195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:48193600-48195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:48193600-48195800	Weak transcription	HMEC	breast
33	chr3:48193600-48196000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:48193600-48196000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:48193600-48196000	Weak transcription	HUVEC	blood vessel
36	chr3:48193600-48197600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:48193600-48199000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:48193600-48199000	Weak transcription	GM12878-XiMat	blood
39	chr3:48193600-48200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:48193600-48202800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:48193600-48205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:48193600-48228200	Weak transcription	Pancreas	Pancrea
43	chr3:48193800-48195400	Weak transcription	Stomach Mucosa	stomach
44	chr3:48193800-48196000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:48193800-48198400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:48193800-48199600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:48193800-48200000	Weak transcription	Fetal Intestine Large	intestine
48	chr3:48193800-48200000	Weak transcription	HSMM	muscle
49	chr3:48193800-48200800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:48193800-48203000	Weak transcription	Colonic Mucosa	Colon

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