Variant report

Variant	rs7449019
Chromosome Location	chr5:49967295-49967296
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:
2	chr5:49965470..49967570-chr5:49976528..49979367,2	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10038842	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10039639	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041633	1.00[ASN][1000 genomes]
rs10043477	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045122	1.00[ASN][1000 genomes]
rs10052001	1.00[ASN][1000 genomes]
rs10065069	0.92[AMR][1000 genomes]
rs10070517	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071272	1.00[ASN][1000 genomes]
rs10434558	1.00[ASN][1000 genomes]
rs10471888	1.00[ASN][1000 genomes]
rs10471893	1.00[ASN][1000 genomes]
rs10471940	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471956	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755235	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10940472	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10940497	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11739828	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11741205	1.00[ASN][1000 genomes]
rs11750241	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11750771	0.92[EUR][1000 genomes]
rs12188262	0.92[EUR][1000 genomes]
rs12188654	0.91[EUR][1000 genomes]
rs12518710	1.00[ASN][1000 genomes]
rs12519006	0.86[EUR][1000 genomes]
rs12521579	0.86[EUR][1000 genomes]
rs13153982	0.94[EUR][1000 genomes]
rs13162921	1.00[ASN][1000 genomes]
rs13164951	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173734	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13355372	1.00[ASN][1000 genomes]
rs13355434	1.00[ASN][1000 genomes]
rs13359044	0.86[EUR][1000 genomes]
rs1375127	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152102	0.86[EUR][1000 genomes]
rs154133	0.86[EUR][1000 genomes]
rs154135	0.85[EUR][1000 genomes]
rs154137	0.86[EUR][1000 genomes]
rs154138	0.85[EUR][1000 genomes]
rs154141	0.86[EUR][1000 genomes]
rs157970	0.84[EUR][1000 genomes]
rs16884018	0.90[EUR][1000 genomes]
rs169497	0.81[EUR][1000 genomes]
rs171555	0.86[EUR][1000 genomes]
rs17195388	0.86[EUR][1000 genomes]
rs182230	0.94[EUR][1000 genomes]
rs1988613	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034392	1.00[ASN][1000 genomes]
rs2034394	1.00[ASN][1000 genomes]
rs2354526	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2548581	0.85[EUR][1000 genomes]
rs2548582	0.85[EUR][1000 genomes]
rs2548583	0.85[EUR][1000 genomes]
rs256340	0.85[EUR][1000 genomes]
rs256341	0.86[EUR][1000 genomes]
rs26065	0.85[EUR][1000 genomes]
rs26066	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26068	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26069	0.84[EUR][1000 genomes]
rs26071	0.85[EUR][1000 genomes]
rs2697662	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27156	0.81[EUR][1000 genomes]
rs27244	0.84[EUR][1000 genomes]
rs27245	0.84[EUR][1000 genomes]
rs27251	0.84[EUR][1000 genomes]
rs27254	0.84[EUR][1000 genomes]
rs27357	0.82[EUR][1000 genomes]
rs27465	0.85[EUR][1000 genomes]
rs27468	0.86[EUR][1000 genomes]
rs27469	0.86[EUR][1000 genomes]
rs27574	0.81[EUR][1000 genomes]
rs27627	0.84[EUR][1000 genomes]
rs27725	0.82[EUR][1000 genomes]
rs28085	0.82[EUR][1000 genomes]
rs282549	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs282550	0.86[EUR][1000 genomes]
rs282551	0.85[EUR][1000 genomes]
rs282552	0.86[EUR][1000 genomes]
rs282553	0.87[EUR][1000 genomes]
rs282557	0.92[EUR][1000 genomes]
rs282559	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs282561	0.91[EUR][1000 genomes]
rs32377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32378	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32425	0.86[EUR][1000 genomes]
rs3763367	0.92[EUR][1000 genomes]
rs39613	0.84[EUR][1000 genomes]
rs4029420	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4101529	1.00[ASN][1000 genomes]
rs42284	0.85[EUR][1000 genomes]
rs4865628	0.88[EUR][1000 genomes]
rs4865846	1.00[ASN][1000 genomes]
rs4866001	1.00[ASN][1000 genomes]
rs57079776	0.90[EUR][1000 genomes]
rs62366937	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6450301	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6450359	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869356	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872496	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6879306	1.00[ASN][1000 genomes]
rs6886872	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888147	1.00[ASN][1000 genomes]
rs6890519	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6890869	0.88[EUR][1000 genomes]
rs73093361	1.00[ASN][1000 genomes]
rs73112331	1.00[ASN][1000 genomes]
rs73112340	1.00[ASN][1000 genomes]
rs7709831	1.00[ASN][1000 genomes]
rs7710150	1.00[ASN][1000 genomes]
rs7711839	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728222	1.00[ASN][1000 genomes]
rs7730847	1.00[ASN][1000 genomes]
rs7734389	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895801	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921210	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv968910	chr5:49961360-49980983	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv968305	chr5:49966431-49968246	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7449019	PARP8	Cis_1M	lymphoblastoid	RTeQTL
rs7449019	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964200-49968000	Weak transcription	Spleen	Spleen
2	chr5:49964400-49967800	Weak transcription	Stomach Mucosa	stomach
3	chr5:49964400-49968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:49964400-49970000	Weak transcription	Aorta	Aorta
5	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
9	chr5:49964600-49969000	Weak transcription	Osteobl	bone
10	chr5:49964800-49967800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:49964800-49967800	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:49964800-49968000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:49964800-49968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:49964800-49968200	Weak transcription	Fetal Stomach	stomach
15	chr5:49964800-49968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:49964800-49969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:49964800-49969200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:49964800-49970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
21	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
23	chr5:49965000-49967800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:49965000-49970200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:49965400-49967800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:49965400-49968400	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:49965400-49968400	Weak transcription	Small Intestine	intestine
28	chr5:49965400-49969400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:49965600-49967400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:49965600-49967800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:49965600-49967800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:49965600-49967800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:49965600-49968000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:49965600-49968000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:49965600-49968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:49965600-49968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:49965600-49968000	Weak transcription	Fetal Heart	heart
38	chr5:49965600-49968200	Weak transcription	Fetal Intestine Large	intestine
39	chr5:49965600-49968600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:49965600-49976400	Weak transcription	HMEC	breast
41	chr5:49965800-49967400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:49965800-49967800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:49965800-49967800	Enhancers	Primary B cells from cord blood	blood
44	chr5:49965800-49967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:49965800-49968000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:49965800-49968400	Weak transcription	Fetal Thymus	thymus
47	chr5:49965800-49969800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:49965800-49973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:49965800-49973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung

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