Variant report

Variant	rs1673205
Chromosome Location	chr7:138274187-138274188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138272442..138274593-chr7:138278540..138281503,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10155993	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10215281	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10227693	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10232771	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10247380	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10248731	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1030961	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1077772	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1116324	0.85[ASN][1000 genomes]
rs11976614	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12666310	0.88[ASN][1000 genomes]
rs1363053	0.85[JPT][hapmap]
rs1421604	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1544733	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1616318	0.88[ASN][1000 genomes]
rs1659830	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs1673203	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1673204	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs1673206	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1673207	0.91[ASN][1000 genomes]
rs17364560	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs17461551	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1813003	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1874326	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2353354	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2353355	0.92[ASN][1000 genomes]
rs3757381	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778705	0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3807155	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3807156	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807157	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs3816192	0.85[EUR][1000 genomes]
rs62485263	0.85[ASN][1000 genomes]
rs62485264	0.87[ASN][1000 genomes]
rs6467776	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467778	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467780	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6467782	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6467783	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6944764	0.84[EUR][1000 genomes]
rs6948094	0.84[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6954285	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6959574	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6963539	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs728092	0.91[ASN][1000 genomes]
rs749546	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7808392	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9791462	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9791634	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs985299	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138256400-138276600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:138257400-138274200	Weak transcription	HSMMtube	muscle
3	chr7:138264600-138274200	Weak transcription	Ovary	ovary
4	chr7:138265400-138276800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:138266200-138275600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:138267000-138274400	Weak transcription	Fetal Lung	lung
7	chr7:138267800-138274400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:138270600-138274400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:138270800-138274800	Weak transcription	GM12878-XiMat	blood
10	chr7:138270800-138276600	Weak transcription	K562	blood
11	chr7:138272200-138274200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:138272200-138274400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:138272400-138274200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:138272400-138276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:138272400-138278200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:138272600-138274200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:138272600-138274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:138272600-138274200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:138272600-138274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:138272600-138274200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:138272600-138274200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:138272600-138274200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:138272600-138274200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:138272600-138274400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:138272600-138274400	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:138272600-138274400	Weak transcription	NH-A	brain
27	chr7:138272600-138274600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:138272600-138274800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:138272600-138275000	Weak transcription	Fetal Stomach	stomach
30	chr7:138272600-138276200	Weak transcription	Fetal Intestine Small	intestine
31	chr7:138272600-138276600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:138272600-138280400	Weak transcription	Thymus	Thymus
33	chr7:138272600-138286200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:138272800-138274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:138272800-138274400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:138272800-138274400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:138272800-138274600	Weak transcription	Brain Germinal Matrix	brain
38	chr7:138272800-138274600	Weak transcription	Fetal Thymus	thymus
39	chr7:138272800-138274600	Weak transcription	Dnd41	blood
40	chr7:138272800-138275200	Weak transcription	Liver	Liver
41	chr7:138272800-138276400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:138272800-138278400	Weak transcription	Fetal Intestine Large	intestine
43	chr7:138273000-138274600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:138273000-138274800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:138273000-138274800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:138273000-138274800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:138273000-138275600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:138273000-138276400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:138273000-138278600	Weak transcription	Fetal Brain Female	brain
50	chr7:138273000-138284000	Weak transcription	Fetal Kidney	kidney

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