Variant report

Variant	rs234319
Chromosome Location	chr19:40499928-40499929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr19:40499383-40500017	HEK293	kidney:	n/a	n/a
2	POLR2A	chr19:40499570-40500058	SK-N-MC	brain:	n/a	n/a
3	KAP1	chr19:40499403-40500006	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF780B-2	chr19:40497983-40502942	NONHSAT066331

Variant related genes	Relation type
ENSG00000221233	TF binding region
ZNF546	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10410695	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234297	1.00[EUR][1000 genomes]
rs234307	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234312	1.00[EUR][1000 genomes]
rs234316	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234321	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234322	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234327	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234342	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234359	0.92[YRI][hapmap]
rs2531363	0.82[YRI][hapmap]
rs2542302	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2542311	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs28589691	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs28661993	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	1.00[EUR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40477800-40501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40478600-40501800	Weak transcription	Right Atrium	heart
3	chr19:40487600-40501800	Weak transcription	Right Ventricle	heart
4	chr19:40488200-40501800	Weak transcription	Esophagus	oesophagus
5	chr19:40488400-40501800	Weak transcription	Left Ventricle	heart
6	chr19:40488800-40501800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:40489000-40501600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:40489600-40500200	Weak transcription	Fetal Kidney	kidney
9	chr19:40490200-40501600	Weak transcription	HSMM	muscle
10	chr19:40490200-40501600	Weak transcription	Osteobl	bone
11	chr19:40490200-40501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:40490200-40501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:40490200-40502400	Weak transcription	Aorta	Aorta
14	chr19:40490400-40501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:40491000-40502200	Weak transcription	Ovary	ovary
16	chr19:40493000-40501800	Weak transcription	Brain Angular Gyrus	brain
17	chr19:40493000-40501800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:40493200-40501800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:40493400-40501800	Weak transcription	Psoas Muscle	Psoas
20	chr19:40493600-40501000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:40493600-40501600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:40494400-40501800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:40495400-40501800	Weak transcription	Adipose Nuclei	Adipose
24	chr19:40495600-40501800	Weak transcription	HSMMtube	muscle
25	chr19:40496200-40501800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:40496600-40502200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:40497600-40500600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:40497600-40501400	Weak transcription	Pancreas	Pancrea
29	chr19:40497600-40501600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:40498000-40501000	ZNF genes & repeats	A549	lung
31	chr19:40498200-40500000	Strong transcription	Primary T cells from cord blood	blood
32	chr19:40498800-40500200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr19:40498800-40500200	ZNF genes & repeats	Fetal Stomach	stomach
34	chr19:40498800-40501000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:40498800-40501800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:40499000-40500200	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr19:40499000-40501000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr19:40499200-40500200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:40499200-40500200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:40499200-40500400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr19:40499200-40500800	ZNF genes & repeats	Dnd41	blood
42	chr19:40499200-40501000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr19:40499400-40500000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:40499400-40500200	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:40499400-40500200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:40499600-40500000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:40499600-40500000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:40499600-40500000	Enhancers	Duodenum Mucosa	Duodenum
49	chr19:40499600-40500000	ZNF genes & repeats	Placenta	Placenta
50	chr19:40499600-40500000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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