Variant report

Variant	rs2983372
Chromosome Location	chr10:52265609-52265610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52264079..52265677-chr10:52268194..52270152,2	K562	blood:
2	chr10:52264059..52268097-chr10:52270623..52273217,5	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1203374	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203379	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203383	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203384	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203391	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203402	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203412	0.92[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203416	1.00[ASN][1000 genomes]
rs1203417	1.00[ASN][1000 genomes]
rs1203419	1.00[ASN][1000 genomes]
rs1203422	1.00[ASN][1000 genomes]
rs1203426	0.85[EUR][1000 genomes]
rs1203427	0.91[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1209146	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1211373	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024871	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064760	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs2208035	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208037	0.94[YRI][hapmap]
rs2339508	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2339509	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2474611	1.00[ASN][1000 genomes]
rs2574945	1.00[ASN][1000 genomes]
rs2574976	1.00[ASN][1000 genomes]
rs2688874	1.00[ASN][1000 genomes]
rs2688876	1.00[ASN][1000 genomes]
rs2688883	1.00[ASN][1000 genomes]
rs2688884	1.00[ASN][1000 genomes]
rs2842099	1.00[ASN][1000 genomes]
rs2842110	1.00[ASN][1000 genomes]
rs2860490	0.93[YRI][hapmap]
rs2983346	0.94[EUR][1000 genomes]
rs2983348	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983349	0.94[EUR][1000 genomes]
rs2983352	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2983358	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2983362	0.93[YRI][hapmap]
rs2983363	0.93[YRI][hapmap]
rs3001855	0.81[YRI][hapmap]
rs3011711	0.93[YRI][hapmap]
rs3011712	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011715	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011768	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011778	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3011781	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3011795	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011799	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7094723	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs72801753	1.00[ASN][1000 genomes]
rs7923756	1.00[ASN][1000 genomes]
rs910818	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs910819	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9416590	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:73 , 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	chr10:52249200-52266800	Weak transcription	Primary B cells from cord blood	blood
3	chr10:52253800-52268200	Weak transcription	Fetal Intestine Small	intestine
4	chr10:52255000-52267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:52255400-52266600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:52258000-52266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:52258000-52266600	Weak transcription	Ovary	ovary
8	chr10:52258000-52267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:52258000-52271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:52261000-52268200	Weak transcription	Gastric	stomach
11	chr10:52261400-52266600	Weak transcription	Fetal Lung	lung
12	chr10:52261800-52266000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:52261800-52271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:52262000-52266800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:52262000-52270800	Weak transcription	HSMMtube	muscle
16	chr10:52262200-52266200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr10:52262200-52267400	Weak transcription	Small Intestine	intestine
18	chr10:52262200-52271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:52262200-52287200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:52262400-52266400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:52262400-52266400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:52262400-52267600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr10:52262400-52267800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:52262400-52268600	Weak transcription	A549	lung
25	chr10:52262400-52270600	Weak transcription	Primary T cells from cord blood	blood
26	chr10:52262400-52271800	Weak transcription	Fetal Stomach	stomach
27	chr10:52262400-52272600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:52262600-52267800	Weak transcription	Fetal Intestine Large	intestine
29	chr10:52262600-52271200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:52262800-52266400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr10:52262800-52267600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr10:52262800-52273000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:52263000-52267600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:52263200-52266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:52263200-52266600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:52263800-52266200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:52263800-52266800	Weak transcription	Right Atrium	heart
38	chr10:52263800-52267200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:52263800-52271400	Weak transcription	Placenta	Placenta
40	chr10:52263800-52271800	Weak transcription	Esophagus	oesophagus
41	chr10:52264000-52266400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:52264000-52266400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:52264000-52266400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:52264000-52266400	Weak transcription	HepG2	liver
45	chr10:52264000-52266600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:52264000-52266800	Weak transcription	Right Ventricle	heart
47	chr10:52264000-52267200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:52264000-52267600	Enhancers	GM12878-XiMat	blood
49	chr10:52264000-52268000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:52264000-52268000	Weak transcription	Stomach Mucosa	stomach

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