Variant report

Variant	rs7548453
Chromosome Location	chr1:10589836-10589837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10589627..10591241-chr1:10607715..10610040,2	K562	blood:
2	chr1:10588129..10591030-chr1:10598382..10599942,2	K562	blood:
3	chr1:10585162..10588309-chr1:10589608..10593566,5	K562	blood:
4	chr1:10589102..10590636-chr1:10751361..10753054,2	MCF-7	breast:
5	chr1:10589309..10591508-chr1:10651161..10652770,2	MCF-7	breast:
6	chr1:10588978..10590692-chr1:10934341..10936990,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10779737	0.84[EUR][1000 genomes]
rs11121579	0.84[CEU][hapmap]
rs11121581	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11580264	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11584327	0.88[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12073943	0.89[EUR][1000 genomes]
rs12127400	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12565133	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs1307485	0.81[CEU][hapmap]
rs17035189	0.85[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1755592	0.91[EUR][1000 genomes]
rs2086650	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs2186949	0.85[EUR][1000 genomes]
rs2274985	0.88[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2781233	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs481571	0.81[CEU][hapmap]
rs491880	0.81[CEU][hapmap]
rs505141	0.81[CEU][hapmap]
rs528713	0.81[CEU][hapmap]
rs55913143	0.99[ASN][1000 genomes]
rs589151	0.89[EUR][1000 genomes]
rs602601	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs604369	0.88[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs604814	0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs634358	0.80[CEU][hapmap]
rs6676491	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6688558	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6696891	0.98[ASN][1000 genomes]
rs670666	0.84[CEU][hapmap];0.89[TSI][hapmap]
rs673254	0.84[CEU][hapmap]
rs684016	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs7419116	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs7543322	0.98[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs7555790	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9660218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.99[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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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 target site	21 gene(s)	inside rSNPs	diseases
6	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10570800-10595600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:10572000-10590000	Weak transcription	Spleen	Spleen
3	chr1:10572200-10598600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:10573400-10596000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:10576400-10596000	Weak transcription	Dnd41	blood
6	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:10577400-10596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:10577800-10590800	Weak transcription	Fetal Thymus	thymus
9	chr1:10578400-10590600	Weak transcription	Placenta	Placenta
10	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:10579600-10590000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:10579600-10596200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:10580800-10596000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:10580800-10596200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:10582600-10595800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:10582600-10596200	Weak transcription	Thymus	Thymus
17	chr1:10583000-10590000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:10583000-10595800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:10584400-10592000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:10584400-10596000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:10584600-10594200	Weak transcription	K562	blood
22	chr1:10584800-10603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:10585200-10590000	Weak transcription	GM12878-XiMat	blood
24	chr1:10585200-10590200	Weak transcription	Brain Germinal Matrix	brain
25	chr1:10585200-10603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:10585200-10603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:10586200-10590000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:10586200-10595600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:10587600-10592000	Enhancers	Left Ventricle	heart
30	chr1:10587800-10590000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:10587800-10590600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:10587800-10590800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:10587800-10590800	Enhancers	Right Atrium	heart
34	chr1:10587800-10590800	Enhancers	Right Ventricle	heart
35	chr1:10587800-10591200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:10587800-10591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:10587800-10591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:10587800-10591600	Enhancers	Fetal Heart	heart
39	chr1:10587800-10592000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:10588000-10590000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:10588000-10590000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:10588000-10590600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:10588000-10591200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:10588000-10591600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:10588000-10592000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:10588000-10592000	Enhancers	Fetal Muscle Leg	muscle
47	chr1:10588000-10592400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:10588000-10592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:10588000-10593000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:10588200-10590800	Enhancers	Stomach Mucosa	stomach

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