Variant report

Variant	rs13228781
Chromosome Location	chr7:137629249-137629250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137627790..137630235-chr7:137645055..137648680,3	K562	blood:
2	chr7:137620870..137622447-chr7:137627955..137630199,2	K562	blood:
3	chr7:137627223..137629575-chr7:137685502..137688202,2	K562	blood:
4	chr7:137627051..137629539-chr7:137676163..137677717,2	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction
ENSG00000122787	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10224250	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260415	1.00[CEU][hapmap]
rs10267160	0.91[CEU][hapmap]
rs10488443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11970829	1.00[CHB][hapmap]
rs12533090	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536683	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240473	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169459	0.91[CEU][hapmap]
rs17183616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17275136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17276467	1.00[YRI][hapmap]
rs34100060	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34786382	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34814437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878104	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924702	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503163	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615147	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086400	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732274	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777412	0.82[AMR][1000 genomes]
rs7812168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691292	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
8	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:137624000-137629400	Enhancers	Fetal Intestine Large	intestine
12	chr7:137624200-137629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:137624400-137629400	Enhancers	Fetal Intestine Small	intestine
15	chr7:137624800-137629400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:137625800-137629400	Enhancers	Colon Smooth Muscle	Colon
17	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:137626000-137629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:137626000-137632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:137626000-137637000	Weak transcription	NHEK	skin
23	chr7:137626000-137646200	Weak transcription	HMEC	breast
24	chr7:137626200-137629400	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:137626400-137630800	Weak transcription	Gastric	stomach
26	chr7:137626400-137631800	Weak transcription	Lung	lung
27	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:137626800-137629400	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:137626800-137631400	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:137627000-137629400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:137627000-137629400	Enhancers	NHDF-Ad	bronchial
33	chr7:137627200-137629400	Enhancers	Liver	Liver
34	chr7:137627200-137629400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:137627400-137629400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:137627400-137629400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:137627400-137629400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:137627600-137629400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:137627600-137629400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr7:137627600-137629600	Enhancers	Osteobl	bone
42	chr7:137627800-137629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:137627800-137629400	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:137627800-137629600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:137627800-137630200	Enhancers	HepG2	liver
46	chr7:137627800-137630800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:137627800-137632200	Weak transcription	Right Ventricle	heart
48	chr7:137628000-137629400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:137628000-137629400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:137628000-137629400	Enhancers	Fetal Lung	lung

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