Variant report

Variant	rs2968022
Chromosome Location	chr19:21542935-21542936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1114305	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1875256	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2086319	0.80[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2434996	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2562402	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562409	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562415	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562435	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs2562438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650797	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2650798	0.80[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2650842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2650849	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2650851	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279804	0.92[EUR][1000 genomes]
rs279805	0.92[EUR][1000 genomes]
rs279810	0.92[EUR][1000 genomes]
rs279811	0.92[EUR][1000 genomes]
rs279812	0.92[EUR][1000 genomes]
rs279814	0.92[EUR][1000 genomes]
rs279815	0.92[EUR][1000 genomes]
rs279816	0.92[EUR][1000 genomes]
rs279819	0.89[EUR][1000 genomes]
rs279820	0.92[EUR][1000 genomes]
rs2914626	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914627	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914635	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2914645	0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2928188	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2928209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2928211	0.92[ASN][1000 genomes]
rs2928216	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2928218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2937157	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2937174	0.80[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968024	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968040	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968041	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968045	0.80[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968046	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968066	1.00[EUR][1000 genomes]
rs2968082	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs472472	0.83[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs475162	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476376	0.92[EUR][1000 genomes]
rs478046	0.92[EUR][1000 genomes]
rs487991	1.00[EUR][1000 genomes]
rs489613	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs489845	0.80[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs492271	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs499445	0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs501563	0.84[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs504026	0.92[EUR][1000 genomes]
rs508656	0.92[EUR][1000 genomes]
rs511469	0.92[EUR][1000 genomes]
rs527060	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs537114	0.92[EUR][1000 genomes]
rs540637	0.92[EUR][1000 genomes]
rs540714	0.92[EUR][1000 genomes]
rs541639	0.83[JPT][hapmap];0.92[EUR][1000 genomes]
rs547516	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs555596	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs571937	0.83[EUR][1000 genomes]
rs583680	0.92[EUR][1000 genomes]
rs586144	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs598959	0.80[CHB][hapmap];1.00[EUR][1000 genomes]
rs600186	0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs609806	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs612877	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627522	0.86[ASN][1000 genomes]
rs631436	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs651454	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs661453	0.92[EUR][1000 genomes]
rs8102235	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8112775	0.83[JPT][hapmap];1.00[EUR][1000 genomes]
rs924485	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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 target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21541200-21543000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:21541400-21543000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21541400-21543000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:21541400-21543000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:21541400-21543000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:21541400-21543000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:21541400-21543000	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:21541400-21543000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:21541400-21543000	Active TSS	Muscle Satellite Cultured Cells	--
10	chr19:21541400-21543000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:21541400-21543000	Active TSS	Duodenum Mucosa	Duodenum
12	chr19:21541400-21543000	Active TSS	Thymus	Thymus
13	chr19:21541400-21543000	Active TSS	HUVEC	blood vessel
14	chr19:21541400-21543000	Active TSS	NHDF-Ad	bronchial
15	chr19:21541400-21543000	Active TSS	NHLF	lung
16	chr19:21541400-21543200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:21541400-21543200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:21541400-21543200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:21541400-21543200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:21541400-21543200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:21541400-21543200	Active TSS	Fetal Kidney	kidney
22	chr19:21541400-21543200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr19:21541400-21543200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr19:21541400-21543200	Active TSS	GM12878-XiMat	blood
25	chr19:21541400-21543200	Active TSS	HMEC	breast
26	chr19:21541400-21543200	Active TSS	HSMM	muscle
27	chr19:21541400-21543400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr19:21541400-21543400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:21541400-21543400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr19:21541400-21543400	Active TSS	Fetal Brain Female	brain
31	chr19:21541600-21543000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr19:21541600-21543000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:21541600-21543000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:21541600-21543000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:21541600-21543000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:21541600-21543000	Active TSS	Fetal Stomach	stomach
37	chr19:21541600-21543000	Active TSS	HepG2	liver
38	chr19:21541600-21543000	Active TSS	NH-A	brain
39	chr19:21541600-21543000	Active TSS	NHEK	skin
40	chr19:21541600-21543400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr19:21541600-21543400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:21541600-21543800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr19:21541800-21543200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr19:21541800-21543200	Active TSS	Hela-S3	cervix
45	chr19:21542200-21543000	Active TSS	Primary T cells fromperipheralblood	blood
46	chr19:21542200-21547800	Weak transcription	Spleen	Spleen
47	chr19:21542400-21543000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:21542400-21543000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:21542400-21543000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:21542400-21544000	Weak transcription	Fetal Lung	lung

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