Variant report

Variant	rs17468285
Chromosome Location	chr19:37182020-37182021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37181989..37183751-chr19:37185585..37187447,2	K562	blood:
2	chr19:37177678..37180392-chr19:37181759..37186073,4	K562	blood:
3	chr19:37180811..37182486-chr19:37182831..37185774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225975	Chromatin interaction
ENSG00000189042	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10408063	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10408318	0.97[AFR][1000 genomes]
rs10410939	1.00[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10411150	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10413697	0.90[AFR][1000 genomes]
rs10413876	1.00[CHB][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414240	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10417106	0.97[AFR][1000 genomes]
rs10417344	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10418271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10422700	0.82[YRI][hapmap];0.97[AFR][1000 genomes]
rs10425382	0.97[AFR][1000 genomes]
rs1148392	0.89[YRI][hapmap]
rs11880022	1.00[ASN][1000 genomes]
rs11880159	1.00[ASN][1000 genomes]
rs1227559	1.00[ASN][1000 genomes]
rs1227561	1.00[ASN][1000 genomes]
rs1227795	0.91[YRI][hapmap]
rs1227798	0.82[ASW][hapmap];0.91[YRI][hapmap]
rs1227813	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap]
rs12459208	1.00[ASN][1000 genomes]
rs12459218	1.00[ASN][1000 genomes]
rs12459243	1.00[ASN][1000 genomes]
rs12459325	1.00[ASN][1000 genomes]
rs12459377	0.90[ASN][1000 genomes]
rs12459429	1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[ASN][1000 genomes]
rs12459894	0.90[ASN][1000 genomes]
rs12459915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459923	1.00[ASN][1000 genomes]
rs12460049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs12460354	1.00[ASN][1000 genomes]
rs12460418	1.00[ASN][1000 genomes]
rs12460420	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12460430	1.00[ASN][1000 genomes]
rs12460455	1.00[ASN][1000 genomes]
rs12460482	1.00[ASN][1000 genomes]
rs12460729	1.00[ASN][1000 genomes]
rs12460774	1.00[ASN][1000 genomes]
rs12461023	1.00[ASN][1000 genomes]
rs12461264	1.00[ASN][1000 genomes]
rs12461265	1.00[ASN][1000 genomes]
rs12461280	1.00[ASN][1000 genomes]
rs12461436	1.00[ASN][1000 genomes]
rs12461474	1.00[ASN][1000 genomes]
rs12461707	1.00[ASN][1000 genomes]
rs12461721	1.00[ASN][1000 genomes]
rs12461723	1.00[ASN][1000 genomes]
rs12461738	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12461954	1.00[ASN][1000 genomes]
rs12461970	1.00[ASN][1000 genomes]
rs12462037	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs12462268	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462281	1.00[ASN][1000 genomes]
rs12462325	1.00[ASN][1000 genomes]
rs12462454	1.00[ASN][1000 genomes]
rs12462471	0.90[ASN][1000 genomes]
rs12462635	1.00[ASN][1000 genomes]
rs12462921	1.00[ASN][1000 genomes]
rs12463012	0.90[ASN][1000 genomes]
rs12974130	1.00[ASN][1000 genomes]
rs12974446	1.00[ASN][1000 genomes]
rs13345382	0.97[AFR][1000 genomes]
rs1623946	0.82[YRI][hapmap]
rs1625762	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1643422	1.00[CHB][hapmap]
rs1643423	0.90[YRI][hapmap]
rs1673076	0.82[ASW][hapmap];0.91[YRI][hapmap]
rs1673083	1.00[ASN][1000 genomes]
rs16971568	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs16973489	1.00[ASN][1000 genomes]
rs1726721	0.81[YRI][hapmap]
rs1726722	0.82[ASW][hapmap]
rs1990964	0.90[ASN][1000 genomes]
rs25419	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs28398875	1.00[ASN][1000 genomes]
rs28418630	0.81[AFR][1000 genomes]
rs28465595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28472526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28645577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28742010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28818888	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2912407	0.82[AFR][1000 genomes]
rs2967425	0.81[AFR][1000 genomes]
rs2967426	0.87[AFR][1000 genomes]
rs2967428	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs2967430	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs34106502	1.00[ASN][1000 genomes]
rs35621405	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35706444	1.00[ASN][1000 genomes]
rs3859520	0.90[ASN][1000 genomes]
rs491951	0.90[ASN][1000 genomes]
rs500244	0.90[ASN][1000 genomes]
rs58245911	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58880289	0.97[AFR][1000 genomes]
rs59951429	0.89[AFR][1000 genomes]
rs60268308	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60615280	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7251193	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs73607078	0.97[AFR][1000 genomes]
rs73609133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73609981	0.89[AFR][1000 genomes]
rs73612010	0.93[AFR][1000 genomes]
rs73612013	0.97[AFR][1000 genomes]
rs73612031	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612039	0.97[AFR][1000 genomes]
rs73612043	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612047	0.97[AFR][1000 genomes]
rs73612050	0.97[AFR][1000 genomes]
rs73612052	0.97[AFR][1000 genomes]
rs73615692	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73615693	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73617803	0.90[AFR][1000 genomes]
rs7508258	1.00[ASN][1000 genomes]
rs8104355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8107274	1.00[CHB][hapmap]
rs8111419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17468285	DNAJC5B	trans	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37179000-37184200	ZNF genes & repeats	A549	lung
2	chr19:37179200-37184400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:37179400-37182400	Weak transcription	NH-A	brain
4	chr19:37179400-37182800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:37179400-37183400	Weak transcription	Right Atrium	heart
6	chr19:37179400-37188200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:37179400-37188800	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr19:37179400-37194800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:37179400-37199200	Weak transcription	Fetal Heart	heart
10	chr19:37179600-37194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:37179800-37184200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr19:37179800-37184400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:37179800-37184400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
14	chr19:37179800-37184600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:37179800-37186600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:37179800-37188800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:37179800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:37179800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:37179800-37188800	ZNF genes & repeats	Liver	Liver
20	chr19:37179800-37188800	ZNF genes & repeats	Fetal Brain Female	brain
21	chr19:37179800-37189000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr19:37179800-37189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:37179800-37189200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:37180000-37182600	Strong transcription	K562	blood
25	chr19:37180000-37183000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:37180000-37186200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr19:37180000-37189200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:37180200-37182600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr19:37180200-37182600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:37180200-37183000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:37180200-37183600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr19:37180200-37183800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:37180200-37183800	Strong transcription	Brain Anterior Caudate	brain
34	chr19:37180200-37183800	Strong transcription	Fetal Thymus	thymus
35	chr19:37180200-37184000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:37180200-37184000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr19:37180200-37184000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:37180200-37184200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:37180200-37184400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:37180200-37184400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr19:37180200-37184400	ZNF genes & repeats	Small Intestine	intestine
42	chr19:37180200-37185600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:37180200-37186000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr19:37180200-37186000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr19:37180200-37186600	ZNF genes & repeats	Fetal Stomach	stomach
46	chr19:37180200-37187600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:37180200-37187800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr19:37180200-37188400	Strong transcription	Placenta	Placenta
49	chr19:37180200-37188800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr19:37180200-37189000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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