Variant report

Variant	rs13228276
Chromosome Location	chr7:48140799-48140800
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:48140716-48143588	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48140103..48142604-chr7:48146519..48148132,2	K562	blood:
2	chr7:48139477..48142399-chr7:48149802..48152490,2	K562	blood:

Variant related genes	Relation type
UPP1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6463462	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7341420	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7385009	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48129600-48141000	Weak transcription	Gastric	stomach
2	chr7:48129600-48141200	Weak transcription	Ovary	ovary
3	chr7:48130200-48141400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:48130200-48146800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:48130200-48148200	Weak transcription	Right Atrium	heart
6	chr7:48130400-48141400	Weak transcription	HepG2	liver
7	chr7:48130400-48149800	Weak transcription	Fetal Kidney	kidney
8	chr7:48130400-48150000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:48130600-48143600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:48130800-48149200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:48131000-48145200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr7:48131000-48149200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr7:48131200-48145000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:48131200-48148800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr7:48131200-48149200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr7:48131400-48149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:48131400-48149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:48131600-48142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:48131600-48148800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:48131600-48149000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:48131600-48149600	Weak transcription	Thymus	Thymus
22	chr7:48132200-48146400	Weak transcription	Small Intestine	intestine
23	chr7:48132200-48149200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:48133200-48141200	Weak transcription	Fetal Intestine Large	intestine
25	chr7:48133400-48141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:48133400-48141200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:48133400-48141400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:48134200-48149600	Weak transcription	GM12878-XiMat	blood
29	chr7:48134400-48141000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:48134400-48148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:48134800-48141000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:48134800-48141000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:48135200-48141000	Weak transcription	Colonic Mucosa	Colon
34	chr7:48135200-48149000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:48135200-48149400	Strong transcription	A549	lung
36	chr7:48135400-48141000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:48135800-48141800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:48136200-48144800	Weak transcription	Fetal Stomach	stomach
39	chr7:48137200-48144800	Strong transcription	Osteobl	bone
40	chr7:48137200-48149400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:48137600-48143600	Strong transcription	NH-A	brain
42	chr7:48137600-48149200	Strong transcription	HMEC	breast
43	chr7:48137600-48150200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:48137800-48141000	Weak transcription	Fetal Intestine Small	intestine
45	chr7:48137800-48149000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:48137800-48149000	Strong transcription	Lung	lung
47	chr7:48137800-48149200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:48137800-48149200	Strong transcription	NHEK	skin
49	chr7:48137800-48149600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:48137800-48152400	Weak transcription	HSMM	muscle

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