Variant report

Variant	rs2435046
Chromosome Location	chr19:22022606-22022607
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	POLR2A	chr19:22022147-22024612	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:22022514-22023558	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr19:22022431-22022673	K562	blood:	n/a	n/a
4	CEBPB	chr19:22022568-22023170	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:22022447-22023124	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-7	chr19:22022399-22024449	NONHSAT063748

Variant related genes	Relation type
ZNF43	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1543048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998391	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998413	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244041	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359707	1.00[ASN][1000 genomes]
rs2435001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435002	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435005	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435040	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435045	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457783	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457786	0.83[EUR][1000 genomes]
rs2457787	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457789	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457790	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457793	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457795	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
10	nsv911429	chr19:21986292-22110219	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv917200	chr19:22020157-22101914	Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22019000-22022800	Weak transcription	Gastric	stomach
2	chr19:22019000-22024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:22019000-22027800	Weak transcription	Small Intestine	intestine
4	chr19:22019000-22034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:22019200-22022800	Weak transcription	Esophagus	oesophagus
6	chr19:22019200-22023000	Weak transcription	NHEK	skin
7	chr19:22019200-22023600	Weak transcription	HSMMtube	muscle
8	chr19:22019200-22025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:22019200-22034000	Weak transcription	Colonic Mucosa	Colon
10	chr19:22019200-22034400	Weak transcription	Stomach Mucosa	stomach
11	chr19:22019400-22023800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:22019400-22033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:22019600-22022800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:22019600-22022800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:22019600-22022800	Weak transcription	Adipose Nuclei	Adipose
16	chr19:22019600-22022800	Weak transcription	Pancreas	Pancrea
17	chr19:22019600-22022800	Weak transcription	NHLF	lung
18	chr19:22019600-22023000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:22019600-22023000	Weak transcription	Brain Substantia Nigra	brain
20	chr19:22019600-22023000	Weak transcription	Fetal Intestine Small	intestine
21	chr19:22019600-22023000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:22019600-22023200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:22019600-22023400	Weak transcription	Fetal Kidney	kidney
24	chr19:22019600-22023800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:22019600-22024000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:22019600-22024200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:22019600-22024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:22019600-22024600	Weak transcription	Right Ventricle	heart
29	chr19:22019600-22025600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:22019600-22025600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:22019600-22025800	Weak transcription	Fetal Brain Male	brain
32	chr19:22019600-22026200	Weak transcription	Psoas Muscle	Psoas
33	chr19:22019600-22032800	Weak transcription	Right Atrium	heart
34	chr19:22019600-22033400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:22019600-22033600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:22019800-22023200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:22019800-22023400	Weak transcription	Fetal Thymus	thymus
38	chr19:22019800-22025400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:22019800-22028000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:22019800-22033600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:22020000-22032600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:22020200-22027800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:22020400-22023400	Genic enhancers	Dnd41	blood
44	chr19:22020400-22032600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:22020400-22032600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:22020400-22032600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:22020400-22033400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:22020400-22033400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:22020600-22033400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:22020600-22033400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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