Variant report

Variant	rs7197804
Chromosome Location	chr16:31928620-31928621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31908381..31911064-chr16:31928039..31930191,2	K562	blood:
2	chr16:31926933..31929361-chr16:31930312..31932712,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF720-2	chr16:31925797-31928629	NR_049749

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10871460	0.86[EUR][1000 genomes]
rs11150650	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11150651	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12444740	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12599066	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12919368	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12924931	0.93[EUR][1000 genomes]
rs1506907	0.96[YRI][hapmap]
rs1827959	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1828131	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1857943	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2358778	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3843960	1.00[GIH][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3843961	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850114	0.89[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3861268	1.00[GIH][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3861270	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913868	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913870	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913871	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4026652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4026653	0.81[EUR][1000 genomes]
rs4026654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4402587	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889517	1.00[GIH][hapmap];0.84[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889518	1.00[GIH][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889563	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4889565	1.00[GIH][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889567	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889568	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889569	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6565290	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6565291	0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7192047	1.00[JPT][hapmap]
rs7200162	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7202831	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203345	1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205034	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8048908	1.00[GIH][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs8056158	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8058598	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8059500	0.89[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060276	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8062514	0.96[YRI][hapmap]
rs9788838	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921760	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9928574	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9928704	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking 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	43 gene(s)	inside rSNPs	diseases
3	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1066522	chr16:31831196-31959992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1057300	chr16:31862900-31959992	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv833196	chr16:31897381-32068953	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1850460	chr16:31905688-32097085	Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31917000-31931200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr16:31917000-31931600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr16:31917000-31932000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
4	chr16:31917000-31932200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr16:31917000-31932400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:31917000-31932400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr16:31917000-31934000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:31917000-31935200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr16:31917000-31935400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:31917200-31930600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr16:31917200-31930800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr16:31917200-31931600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr16:31917400-31930200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr16:31917400-31930600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:31918000-31930400	ZNF genes & repeats	A549	lung
16	chr16:31919600-31930400	ZNF genes & repeats	Dnd41	blood
17	chr16:31920400-31930400	ZNF genes & repeats	GM12878-XiMat	blood
18	chr16:31920800-31929800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
19	chr16:31921200-31932400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:31922200-31930200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:31922400-31929400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr16:31922400-31931800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:31922400-31931800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:31922400-31932000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr16:31922400-31932400	ZNF genes & repeats	Liver	Liver
26	chr16:31922600-31930200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:31922600-31931400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:31922800-31930400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:31922800-31930400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr16:31922800-31932000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:31922800-31932000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr16:31923000-31929800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr16:31923000-31930200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr16:31923000-31930400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
35	chr16:31923000-31931400	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr16:31923200-31931400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
37	chr16:31923400-31930800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:31923600-31931400	ZNF genes & repeats	HSMM	muscle
39	chr16:31924000-31929200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr16:31924000-31929200	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr16:31924000-31929800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
42	chr16:31924000-31930200	ZNF genes & repeats	HepG2	liver
43	chr16:31924200-31930200	ZNF genes & repeats	Fetal Lung	lung
44	chr16:31924200-31930600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:31924400-31929000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr16:31924400-31929400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:31924400-31929400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr16:31924400-31929600	ZNF genes & repeats	HUVEC	blood vessel
49	chr16:31924400-31930200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:31924400-31930200	ZNF genes & repeats	NH-A	brain

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