Variant report

Variant	rs927047
Chromosome Location	chr10:52267394-52267395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52227035..52229845-chr10:52267079..52268728,2	MCF-7	breast:
2	chr10:52260323..52263504-chr10:52265636..52267832,3	MCF-7	breast:
3	chr10:52266589..52268433-chr10:52270760..52273217,2	K562	blood:
4	chr10:52264059..52268097-chr10:52270623..52273217,5	K562	blood:
5	chr10:52227177..52229638-chr10:52267267..52268794,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10508927	0.94[CHD][hapmap];0.94[JPT][hapmap]
rs10508928	0.82[JPT][hapmap]
rs10508929	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10733968	0.80[EUR][1000 genomes]
rs10740684	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10763373	0.82[JPT][hapmap]
rs10763382	0.94[CHD][hapmap];0.94[JPT][hapmap]
rs10763392	0.88[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs10763426	0.84[ASN][1000 genomes]
rs10763500	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10825789	0.82[JPT][hapmap]
rs10825859	0.85[EUR][1000 genomes]
rs10825861	0.94[CHD][hapmap];0.94[JPT][hapmap]
rs10825882	0.94[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10825904	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10825934	0.84[ASN][1000 genomes]
rs10825978	0.94[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10825995	0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10825996	0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10826013	0.83[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10826033	0.94[ASN][1000 genomes]
rs10826036	0.95[ASN][1000 genomes]
rs10826167	0.81[TSI][hapmap]
rs11005356	0.94[JPT][hapmap]
rs11005399	0.82[JPT][hapmap]
rs11005418	0.94[JPT][hapmap]
rs11005579	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11005614	0.94[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11005621	0.85[ASN][1000 genomes]
rs11005761	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11005803	0.95[ASN][1000 genomes]
rs11005884	0.94[ASN][1000 genomes]
rs12217648	0.84[ASN][1000 genomes]
rs12219070	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1884572	0.89[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1916572	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2144863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273402	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2339400	0.88[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs2339401	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs2339503	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2339507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34122137	0.84[ASN][1000 genomes]
rs3739989	0.94[CHD][hapmap];0.94[JPT][hapmap]
rs4935165	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4935711	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4935728	0.97[ASN][1000 genomes]
rs7079881	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7086029	0.94[CHD][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7090807	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7092749	0.82[JPT][hapmap]
rs768185	0.82[JPT][hapmap]
rs7896315	0.82[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7920818	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7922802	0.88[JPT][hapmap]
rs910817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927048	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9299582	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv895391	chr10:52260398-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv895392	chr10:52263910-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv467193	chr10:52265265-52289664	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv550855	chr10:52265265-52289664	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52247000-52271200	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:52253800-52268200	Weak transcription	Fetal Intestine Small	intestine
3	chr10:52258000-52271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:52261000-52268200	Weak transcription	Gastric	stomach
5	chr10:52261800-52271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:52262000-52270800	Weak transcription	HSMMtube	muscle
7	chr10:52262200-52267400	Weak transcription	Small Intestine	intestine
8	chr10:52262200-52271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:52262200-52287200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:52262400-52267600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:52262400-52267800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:52262400-52268600	Weak transcription	A549	lung
13	chr10:52262400-52270600	Weak transcription	Primary T cells from cord blood	blood
14	chr10:52262400-52271800	Weak transcription	Fetal Stomach	stomach
15	chr10:52262400-52272600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:52262600-52267800	Weak transcription	Fetal Intestine Large	intestine
17	chr10:52262600-52271200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:52262800-52267600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr10:52262800-52273000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr10:52263000-52267600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:52263800-52271400	Weak transcription	Placenta	Placenta
22	chr10:52263800-52271800	Weak transcription	Esophagus	oesophagus
23	chr10:52264000-52267600	Enhancers	GM12878-XiMat	blood
24	chr10:52264000-52268000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:52264000-52268000	Weak transcription	Stomach Mucosa	stomach
26	chr10:52264200-52270800	Weak transcription	K562	blood
27	chr10:52264400-52269600	Weak transcription	Hela-S3	cervix
28	chr10:52264600-52271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:52264800-52271000	Weak transcription	NHEK	skin
30	chr10:52265000-52271200	Enhancers	Brain Cingulate Gyrus	brain
31	chr10:52265000-52272400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr10:52265200-52268800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr10:52265400-52267600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:52265400-52270000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:52265400-52270400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr10:52265400-52273200	Enhancers	Brain Angular Gyrus	brain
37	chr10:52266000-52267600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:52266000-52268400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:52266200-52267400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr10:52266200-52267600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:52266200-52272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr10:52266400-52267600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:52266400-52268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:52266400-52268200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr10:52266400-52268200	Enhancers	Left Ventricle	heart
46	chr10:52266400-52268400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr10:52266400-52272800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:52266400-52272800	Enhancers	HepG2	liver
49	chr10:52266600-52267400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:52266600-52267600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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