Variant report

Variant	rs7205537
Chromosome Location	chr16:74333010-74333011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:74332980-74333246	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr16:74332113-74334097	GM12891	blood:	n/a	n/a
3	POLR2A	chr16:74332978-74333302	U87	brain:	n/a	n/a
4	POLR2A	chr16:74333007-74333030	MCF-7	breast:	n/a	n/a
5	POLR2A	chr16:74332978-74333336	U87	brain:	n/a	n/a
6	POLR2A	chr16:74333000-74333562	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:74330083-74334122	IMR90	lung:	n/a	n/a
8	POLR2A	chr16:74332226-74333564	K562	blood:	n/a	n/a
9	POLR2A	chr16:74330077-74342617	K562	blood:	n/a	n/a
10	POLR2A	chr16:74332925-74333728	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:74333009-74335190	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr16:74330037-74333611	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:74331976-74333556	A549	lung:	n/a	n/a
14	IRF1	chr16:74333006-74333199	K562	blood:	n/a	n/a
15	POLR2A	chr16:74332938-74336688	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr16:74332948-74333144	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:74330014-74342565	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74332920..74334638-chr16:74693142..74695153,2	K562	blood:
2	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
3	chr16:74312086..74314734-chr16:74330934..74333737,2	K562	blood:

No data

Variant related genes	Relation type
PSMD7	TF binding region
ENSG00000261404	TF binding region
ENSG00000140836	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1035556	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1424082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665623	1.00[AMR][1000 genomes]
rs34851911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55691458	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55788378	1.00[AMR][1000 genomes]
rs55860657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55889043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55893911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55956711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56006357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080833	1.00[AMR][1000 genomes]
rs56127651	1.00[AMR][1000 genomes]
rs56137950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56249592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56357740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57064320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57626795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57748335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59467060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60441343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60674476	1.00[AMR][1000 genomes]
rs60816175	1.00[AMR][1000 genomes]
rs60876698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187207	1.00[AMR][1000 genomes]
rs7194713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195195	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030828	0.94[AFR][1000 genomes]
rs74030830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030847	1.00[AMR][1000 genomes]
rs74030854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906900	chr16:73650853-74349043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv906901	chr16:73752982-74455293	Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3505286	chr16:73985029-74382420	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3505287	chr16:73985029-74382420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
9	nsv930993	chr16:74147464-74356710	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1058208	chr16:74160074-74359324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056525	chr16:74186756-74356711	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv542955	chr16:74186756-74356711	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1055180	chr16:74189820-74359324	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv917046	chr16:74202828-74406136	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv833276	chr16:74216065-74438868	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74331400-74333200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr16:74331600-74334800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:74331800-74333400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:74331800-74333600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:74331800-74333800	Weak transcription	Ovary	ovary
6	chr16:74331800-74334000	Weak transcription	Small Intestine	intestine
7	chr16:74331800-74334200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:74331800-74366400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:74332000-74333200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:74332000-74333200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr16:74332000-74333600	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr16:74332000-74333600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:74332000-74333600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr16:74332000-74333600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr16:74332000-74333600	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr16:74332000-74334400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr16:74332000-74342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:74332200-74333600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr16:74332200-74333600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:74332200-74333600	Genic enhancers	Left Ventricle	heart
21	chr16:74332200-74340600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:74332400-74333200	Weak transcription	Spleen	Spleen
23	chr16:74332400-74333400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:74332400-74333400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr16:74332400-74333400	Genic enhancers	Placenta	Placenta
26	chr16:74332400-74333400	Genic enhancers	HUVEC	blood vessel
27	chr16:74332400-74333600	Weak transcription	Brain Anterior Caudate	brain
28	chr16:74332400-74333600	Enhancers	Pancreas	Pancrea
29	chr16:74332400-74333600	Genic enhancers	HSMM	muscle
30	chr16:74332400-74333800	Genic enhancers	Brain Hippocampus Middle	brain
31	chr16:74332400-74334000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr16:74332400-74334200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:74332400-74334400	Genic enhancers	Brain Germinal Matrix	brain
34	chr16:74332400-74335800	Weak transcription	Gastric	stomach
35	chr16:74332400-74337000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr16:74332400-74340400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:74332400-74340600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr16:74332400-74340800	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr16:74332400-74340800	Strong transcription	Osteobl	bone
40	chr16:74332400-74341200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr16:74332400-74341400	Strong transcription	NH-A	brain
42	chr16:74332400-74341600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:74332400-74341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:74332400-74342000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr16:74332400-74342400	Strong transcription	Fetal Thymus	thymus
46	chr16:74332400-74342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:74332600-74333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:74332600-74333200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr16:74332600-74333200	Weak transcription	Fetal Lung	lung
50	chr16:74332600-74333200	Enhancers	Skeletal Muscle Female	skeletal muscle

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