Variant report

Variant	rs10798665
Chromosome Location	chr1:179314720-179314721
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	chr1:179314011..179316743-chr1:179317198..179320043,2	K562	blood:
2	chr1:179261912..179264467-chr1:179313942..179316618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057252	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10494520	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs10753191	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10753192	0.98[EUR][1000 genomes]
rs10798662	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10798670	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10913728	0.82[ASN][1000 genomes]
rs10913731	0.98[EUR][1000 genomes]
rs10913732	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10913733	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10913734	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12022539	0.85[JPT][hapmap]
rs12035050	0.83[ASN][1000 genomes]
rs12044039	0.81[ASN][1000 genomes]
rs12045521	0.83[ASN][1000 genomes]
rs12047160	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12049237	0.86[JPT][hapmap]
rs12073970	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12097041	0.87[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12117333	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12120123	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12121758	0.92[ASN][1000 genomes]
rs12130876	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12131473	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12131475	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12134114	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12138436	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12138619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12141199	0.97[ASN][1000 genomes]
rs12144580	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12402165	0.86[JPT][hapmap]
rs12405133	0.87[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12405321	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs12408349	0.88[CHB][hapmap]
rs12408477	0.84[JPT][hapmap]
rs12408668	0.83[ASN][1000 genomes]
rs12691483	0.82[ASN][1000 genomes]
rs12725126	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12740455	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs12745772	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12759446	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs13306728	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13306731	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes]
rs13374852	0.87[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs1475798	0.85[JPT][hapmap]
rs16853917	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs16853936	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs16854009	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs16854229	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2068234	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2152317	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3753524	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3753526	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4077551	0.87[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs4077552	0.87[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs41308413	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41310929	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41315575	0.98[EUR][1000 genomes]
rs4133136	0.85[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs58284152	0.83[ASN][1000 genomes]
rs60595009	0.83[ASN][1000 genomes]
rs61824365	0.81[ASN][1000 genomes]
rs61824371	0.81[ASN][1000 genomes]
rs61824388	0.83[ASN][1000 genomes]
rs61824389	0.83[ASN][1000 genomes]
rs61824395	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6425537	0.98[EUR][1000 genomes]
rs6666358	0.86[JPT][hapmap]
rs6669967	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs7523799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975025	0.98[EUR][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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
3	chr1:179292400-179328000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:179293000-179322600	Weak transcription	Fetal Heart	heart
5	chr1:179294200-179324600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:179296800-179327800	Weak transcription	Colonic Mucosa	Colon
7	chr1:179297400-179321600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:179298600-179324200	Weak transcription	Thymus	Thymus
9	chr1:179299400-179316800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:179300200-179314800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:179300600-179322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:179301800-179322800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:179303200-179324600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:179303400-179322600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:179304200-179316000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:179304200-179316600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:179304200-179320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:179304200-179324400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:179304200-179324400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:179304200-179324600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:179304200-179325200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:179304400-179318400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:179304400-179324400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:179304600-179316000	Strong transcription	Hela-S3	cervix
26	chr1:179304600-179324200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:179305200-179315800	Weak transcription	Brain Germinal Matrix	brain
28	chr1:179305200-179327200	Weak transcription	Right Ventricle	heart
29	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea
30	chr1:179305800-179322600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:179306000-179321000	Strong transcription	Dnd41	blood
32	chr1:179306800-179324600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:179307200-179316800	Strong transcription	Adipose Nuclei	Adipose
34	chr1:179307400-179325800	Weak transcription	Esophagus	oesophagus
35	chr1:179307600-179322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:179307600-179325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:179307800-179322200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:179308000-179321000	Weak transcription	Fetal Brain Male	brain
39	chr1:179308000-179324400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:179308400-179316000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:179308400-179322600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:179308600-179316000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:179308600-179316400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:179308600-179318000	Strong transcription	Fetal Intestine Large	intestine
45	chr1:179308600-179322000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:179308800-179318000	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:179308800-179320800	Strong transcription	Osteobl	bone
48	chr1:179309800-179326400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:179310000-179325200	Strong transcription	Primary T cells from cord blood	blood
50	chr1:179310200-179315000	Strong transcription	Left Ventricle	heart

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