Variant report

Variant	rs17519121
Chromosome Location	chr10:52267220-52267221
allele	A/G
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	chr10:52259203..52261063-chr10:52265716..52267291,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10490963	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10490964	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11005626	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11005959	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12257419	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12262259	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1369860	0.91[ASN][1000 genomes]
rs17438825	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17440448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17518471	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17519380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721658	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17721694	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17721713	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17778152	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1916568	0.91[ASN][1000 genomes]
rs1916569	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916571	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060560	0.90[ASN][1000 genomes]
rs2064759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2117961	0.82[ASN][1000 genomes]
rs2117962	0.91[ASN][1000 genomes]
rs2255387	0.90[ASN][1000 genomes]
rs2255720	0.90[ASN][1000 genomes]
rs2255849	0.90[ASN][1000 genomes]
rs2255853	0.90[ASN][1000 genomes]
rs2255859	0.87[ASN][1000 genomes]
rs2574955	0.90[ASN][1000 genomes]
rs2574956	0.90[ASN][1000 genomes]
rs2574981	0.90[ASN][1000 genomes]
rs2688875	0.86[ASN][1000 genomes]
rs2688877	0.84[ASN][1000 genomes]
rs2688879	0.90[ASN][1000 genomes]
rs2842102	0.90[ASN][1000 genomes]
rs2842105	0.90[ASN][1000 genomes]
rs2842106	0.90[ASN][1000 genomes]
rs2842107	0.90[ASN][1000 genomes]
rs2842109	0.90[ASN][1000 genomes]
rs34672995	0.93[ASN][1000 genomes]
rs34928652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3802537	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4935152	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4935673	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4935703	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4935713	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4935729	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4935731	0.85[AMR][1000 genomes]
rs4935732	0.85[AMR][1000 genomes]
rs55773344	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55861418	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56078228	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56080689	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56133398	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56225400	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56268559	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56277433	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56403030	0.85[AMR][1000 genomes]
rs61559519	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61741330	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856761	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61856763	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61856778	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61856782	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61856787	0.93[ASN][1000 genomes]
rs61856788	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61856793	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61856794	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856795	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856828	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856832	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61858062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61858064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858065	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858068	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858069	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61858108	0.84[AMR][1000 genomes]
rs61858206	0.91[ASN][1000 genomes]
rs61858207	0.91[ASN][1000 genomes]
rs7067626	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7068430	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069115	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7082805	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7092753	0.96[ASN][1000 genomes]
rs72801752	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72801754	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72801768	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72801775	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72801776	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72801781	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7392702	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7475420	0.85[ASN][1000 genomes]
rs7921632	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs884880	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

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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