Variant report

Variant	rs1005046
Chromosome Location	chr21:45582711-45582712
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45581288..45584070-chr21:45586807..45588482,3	MCF-7	breast:
2	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
3	chr21:45553046..45554600-chr21:45582651..45585521,2	K562	blood:
4	chr21:45581401..45583188-chr21:45662253..45664319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160221	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11089115	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11089117	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1131999	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs11700840	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11700972	0.85[JPT][hapmap]
rs12627239	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs13046297	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs13048551	0.83[ASN][1000 genomes]
rs13049059	0.89[JPT][hapmap]
rs1858665	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2020945	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2020946	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2020948	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2071142	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2071143	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs2071146	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2071152	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2073432	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2073433	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs2156428	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2238704	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2238707	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2238711	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2242950	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2242953	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2242954	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2243999	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2245380	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2245386	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2245462	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2245759	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2247400	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2251267	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2255716	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2255828	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2256441	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2276530	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2277806	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2299812	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2299815	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2299820	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2516519	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2516521	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2838468	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838472	0.84[CHB][hapmap]
rs2838473	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838476	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838477	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838478	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2838482	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838483	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838485	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838486	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838488	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838489	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838490	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838491	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838492	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838494	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838496	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2838500	0.83[ASN][1000 genomes]
rs2838502	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2838503	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2838507	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs2838508	0.89[CEU][hapmap]
rs2838509	0.84[CEU][hapmap]
rs2838511	0.95[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838512	0.83[CEU][hapmap]
rs2838513	0.81[JPT][hapmap]
rs28547944	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788097	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs4818881	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4818882	0.81[ASN][1000 genomes]
rs4819366	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4819376	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4819378	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4819383	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4819384	0.84[JPT][hapmap]
rs7277269	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7279319	0.81[ASN][1000 genomes]
rs7279727	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7280558	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7281291	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7281768	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7283870	0.83[ASN][1000 genomes]
rs729882	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs756554	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs756555	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8126958	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs915772	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs915774	0.90[CEU][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs915878	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9306171	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9306172	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs968714	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9975708	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9981257	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9985064	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats 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
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	esv3398689	chr21:45580349-45583097	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	esv3365228	chr21:45580724-45582772	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1005046	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs1005046	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45575400-45583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
4	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
5	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:45579800-45583000	Enhancers	Fetal Muscle Leg	muscle
7	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
10	chr21:45580200-45582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:45580800-45583200	Weak transcription	Fetal Intestine Small	intestine
12	chr21:45580800-45584800	Weak transcription	Gastric	stomach
13	chr21:45580800-45585800	Weak transcription	HUVEC	blood vessel
14	chr21:45580800-45586600	Weak transcription	Right Ventricle	heart
15	chr21:45580800-45589200	Weak transcription	Colonic Mucosa	Colon
16	chr21:45581000-45582800	Enhancers	Brain Hippocampus Middle	brain
17	chr21:45581000-45583600	Enhancers	Primary B cells from peripheral blood	blood
18	chr21:45581000-45584600	Weak transcription	Brain Germinal Matrix	brain
19	chr21:45581000-45586200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:45581000-45586400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr21:45581000-45590400	Weak transcription	Pancreas	Pancrea
22	chr21:45581000-45591600	Weak transcription	Right Atrium	heart
23	chr21:45581200-45582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:45581200-45584600	Weak transcription	Primary T cells from cord blood	blood
25	chr21:45581200-45585000	Weak transcription	Brain Angular Gyrus	brain
26	chr21:45581200-45585000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr21:45581200-45585800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:45581200-45585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:45581200-45585800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr21:45581200-45586000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:45581200-45586600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:45581200-45589000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr21:45581400-45583400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:45581400-45584400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr21:45581400-45584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45581400-45584600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:45581400-45584600	Weak transcription	Brain Substantia Nigra	brain
38	chr21:45581400-45584600	Weak transcription	Fetal Thymus	thymus
39	chr21:45581400-45585000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr21:45581400-45585200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr21:45581400-45585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr21:45581400-45586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr21:45581400-45586000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:45581400-45586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr21:45581400-45586800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:45581600-45586200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr21:45582000-45582800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr21:45582000-45582800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr21:45582000-45583600	Enhancers	Brain Cingulate Gyrus	brain
50	chr21:45582000-45584600	Enhancers	Skeletal Muscle Male	skeletal muscle

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