Variant report

Variant	rs2928212
Chromosome Location	chr19:21543155-21543156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10410060	1.00[AFR][1000 genomes]
rs10415327	1.00[AFR][1000 genomes]
rs10416025	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs10419810	0.85[YRI][hapmap]
rs10422958	0.90[AFR][1000 genomes]
rs10424292	1.00[AFR][1000 genomes]
rs1613729	0.86[AFR][1000 genomes]
rs1678829	0.86[AFR][1000 genomes]
rs1678832	1.00[AFR][1000 genomes]
rs1762577	0.86[AFR][1000 genomes]
rs1781864	0.86[AFR][1000 genomes]
rs1781872	0.87[YRI][hapmap]
rs2359146	0.85[YRI][hapmap]
rs2434995	1.00[AFR][1000 genomes]
rs2562433	1.00[AFR][1000 genomes]
rs2650755	0.85[YRI][hapmap]
rs2650846	0.85[YRI][hapmap]
rs28816529	1.00[AFR][1000 genomes]
rs2914632	0.85[YRI][hapmap]
rs2914641	1.00[AFR][1000 genomes]
rs2914642	1.00[AFR][1000 genomes]
rs2968027	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2968087	0.90[AFR][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	chr19:21541400-21543200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:21541400-21543200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:21541400-21543200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:21541400-21543200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:21541400-21543200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:21541400-21543200	Active TSS	Fetal Kidney	kidney
7	chr19:21541400-21543200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:21541400-21543200	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr19:21541400-21543200	Active TSS	GM12878-XiMat	blood
10	chr19:21541400-21543200	Active TSS	HMEC	breast
11	chr19:21541400-21543200	Active TSS	HSMM	muscle
12	chr19:21541400-21543400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:21541400-21543400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr19:21541400-21543400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:21541400-21543400	Active TSS	Fetal Brain Female	brain
16	chr19:21541600-21543400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:21541600-21543400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:21541600-21543800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:21541800-21543200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:21541800-21543200	Active TSS	Hela-S3	cervix
21	chr19:21542200-21547800	Weak transcription	Spleen	Spleen
22	chr19:21542400-21544000	Weak transcription	Fetal Lung	lung
23	chr19:21542400-21544400	Weak transcription	Left Ventricle	heart
24	chr19:21542400-21549000	Weak transcription	A549	lung
25	chr19:21542400-21550200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:21542400-21550400	Weak transcription	Lung	lung
27	chr19:21542400-21555400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:21542400-21555400	Weak transcription	Psoas Muscle	Psoas
29	chr19:21542400-21555600	Weak transcription	Colonic Mucosa	Colon
30	chr19:21542400-21557800	Weak transcription	Gastric	stomach
31	chr19:21542400-21562200	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:21542400-21562200	Weak transcription	Fetal Heart	heart
33	chr19:21542400-21563200	Weak transcription	Brain Substantia Nigra	brain
34	chr19:21542600-21543200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:21542600-21543200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:21542600-21543200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr19:21542600-21543200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:21542600-21543400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:21542600-21543400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr19:21542600-21543400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:21542600-21543400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:21542600-21543400	Weak transcription	Fetal Muscle Leg	muscle
43	chr19:21542600-21543600	Weak transcription	Small Intestine	intestine
44	chr19:21542600-21544400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr19:21542600-21544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:21542600-21545200	Weak transcription	Adipose Nuclei	Adipose
47	chr19:21542600-21550400	Weak transcription	Esophagus	oesophagus
48	chr19:21542600-21550400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:21542600-21550400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr19:21542600-21555000	Weak transcription	Brain Hippocampus Middle	brain

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