Variant report

Variant	rs7252295
Chromosome Location	chr19:37180102-37180103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1227798	1.00[MEX][hapmap]
rs1673076	1.00[MEX][hapmap]
rs1726722	1.00[MEX][hapmap]
rs2052729	1.00[AMR][1000 genomes]
rs2912413	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2912414	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2912433	1.00[AMR][1000 genomes]
rs2945991	1.00[AMR][1000 genomes]
rs2967428	1.00[MEX][hapmap]
rs2967454	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2967458	1.00[AMR][1000 genomes]
rs3096634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525345	0.82[YRI][hapmap]
rs7251193	1.00[MEX][hapmap]
rs8105119	0.88[AFR][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
rs7252295	DNAJC5B	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37177200-37180200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:37178800-37180600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr19:37179000-37182000	Weak transcription	Aorta	Aorta
4	chr19:37179000-37184200	ZNF genes & repeats	A549	lung
5	chr19:37179200-37180200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:37179200-37180200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:37179200-37180200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:37179200-37180200	Weak transcription	Fetal Thymus	thymus
9	chr19:37179200-37180200	Weak transcription	Small Intestine	intestine
10	chr19:37179200-37180400	Weak transcription	Esophagus	oesophagus
11	chr19:37179200-37180400	Weak transcription	Left Ventricle	heart
12	chr19:37179200-37180400	Weak transcription	Ovary	ovary
13	chr19:37179200-37180400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:37179200-37180400	Weak transcription	Stomach Mucosa	stomach
15	chr19:37179200-37181800	Weak transcription	Pancreas	Pancrea
16	chr19:37179200-37182000	Weak transcription	Gastric	stomach
17	chr19:37179200-37184400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr19:37179400-37180200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:37179400-37180200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:37179400-37180200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:37179400-37180200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:37179400-37180200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:37179400-37180200	Weak transcription	Primary T cells from cord blood	blood
24	chr19:37179400-37180200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:37179400-37180200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:37179400-37180200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:37179400-37180200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:37179400-37180200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:37179400-37180200	Weak transcription	Brain Anterior Caudate	brain
30	chr19:37179400-37180200	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:37179400-37180200	Weak transcription	Colonic Mucosa	Colon
32	chr19:37179400-37180200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:37179400-37180200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:37179400-37180200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:37179400-37180200	Weak transcription	Fetal Lung	lung
36	chr19:37179400-37180200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:37179400-37180200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:37179400-37180200	Weak transcription	GM12878-XiMat	blood
39	chr19:37179400-37180200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr19:37179400-37180200	Weak transcription	NHLF	lung
41	chr19:37179400-37180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr19:37179400-37180400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:37179400-37180400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:37179400-37180400	Weak transcription	Primary B cells from cord blood	blood
45	chr19:37179400-37180400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:37179400-37180400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:37179400-37180400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:37179400-37180400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:37179400-37180400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:37179400-37180400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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