Variant report

Variant	rs889641
Chromosome Location	chr16:74333380-74333381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:74333111-74334234	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:74333170-74333591	GM12891	blood:	n/a	n/a
3	POLR2A	chr16:74333364-74333464	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:74333170-74333651	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:74332113-74334097	GM12891	blood:	n/a	n/a
6	POLR2A	chr16:74333120-74333713	U87	brain:	n/a	n/a
7	POLR2A	chr16:74333187-74333684	K562	blood:	n/a	n/a
8	POLR2A	chr16:74333189-74333579	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr16:74333158-74333634	GM12891	blood:	n/a	n/a
10	POLR2A	chr16:74333246-74333579	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:74333341-74333521	A549	lung:	n/a	n/a
12	POLR2A	chr16:74333000-74333562	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:74333112-74333606	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr16:74333095-74333566	K562	blood:	n/a	n/a
15	POLR2A	chr16:74333250-74333585	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr16:74330083-74334122	IMR90	lung:	n/a	n/a
17	POLR2A	chr16:74333021-74333660	GM12892	blood:	n/a	n/a
18	POLR2A	chr16:74333105-74333748	K562	blood:	n/a	n/a
19	POLR2A	chr16:74333111-74333617	GM12892	blood:	n/a	n/a
20	POLR2A	chr16:74333265-74333546	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:74332226-74333564	K562	blood:	n/a	n/a
22	POLR2A	chr16:74330077-74342617	K562	blood:	n/a	n/a
23	POLR2A	chr16:74333251-74333523	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:74333079-74333686	GM12892	blood:	n/a	n/a
25	POLR2A	chr16:74332925-74333728	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:74333009-74335190	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr16:74330037-74333611	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:74333031-74333542	MCF-7	breast:	n/a	n/a
29	POLR2A	chr16:74333237-74333560	GM12892	blood:	n/a	n/a
30	POLR2A	chr16:74331976-74333556	A549	lung:	n/a	n/a
31	POLR2A	chr16:74333119-74333469	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:74333232-74333672	K562	blood:	n/a	n/a
33	POLR2A	chr16:74332938-74336688	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr16:74333127-74333770	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:74333256-74333579	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr16:74333282-74333498	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr16:74333246-74333631	HL-60	blood:	n/a	n/a
38	POLR2A	chr16:74333219-74333687	HepG2	liver:	n/a	n/a
39	POLR2A	chr16:74330014-74342565	HepG2	liver:	n/a	n/a

No data

(count:4 , 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:
4	chr16:74333029..74335675-chr16:74353488..74356515,3	K562	blood:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11646302	0.81[EUR][1000 genomes]
rs1195629	0.89[YRI][hapmap]
rs1195631	0.95[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12102785	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12325102	0.80[ASN][1000 genomes]
rs17334975	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17336867	0.85[JPT][hapmap]
rs4888212	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889487	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8047355	0.80[EUR][1000 genomes]
rs961333	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9927929	0.92[JPT][hapmap]

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	chr16:74331600-74334800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:74331800-74333400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:74331800-74333600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:74331800-74333800	Weak transcription	Ovary	ovary
5	chr16:74331800-74334000	Weak transcription	Small Intestine	intestine
6	chr16:74331800-74334200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:74331800-74366400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:74332000-74333600	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr16:74332000-74333600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:74332000-74333600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr16:74332000-74333600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:74332000-74333600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr16:74332000-74334400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:74332000-74342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:74332200-74333600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr16:74332200-74333600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:74332200-74333600	Genic enhancers	Left Ventricle	heart
18	chr16:74332200-74340600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:74332400-74333400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:74332400-74333400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr16:74332400-74333400	Genic enhancers	Placenta	Placenta
22	chr16:74332400-74333400	Genic enhancers	HUVEC	blood vessel
23	chr16:74332400-74333600	Weak transcription	Brain Anterior Caudate	brain
24	chr16:74332400-74333600	Enhancers	Pancreas	Pancrea
25	chr16:74332400-74333600	Genic enhancers	HSMM	muscle
26	chr16:74332400-74333800	Genic enhancers	Brain Hippocampus Middle	brain
27	chr16:74332400-74334000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr16:74332400-74334200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:74332400-74334400	Genic enhancers	Brain Germinal Matrix	brain
30	chr16:74332400-74335800	Weak transcription	Gastric	stomach
31	chr16:74332400-74337000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr16:74332400-74340400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:74332400-74340600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr16:74332400-74340800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr16:74332400-74340800	Strong transcription	Osteobl	bone
36	chr16:74332400-74341200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr16:74332400-74341400	Strong transcription	NH-A	brain
38	chr16:74332400-74341600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:74332400-74341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:74332400-74342000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:74332400-74342400	Strong transcription	Fetal Thymus	thymus
42	chr16:74332400-74342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr16:74332600-74333400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:74332600-74333400	Weak transcription	Colonic Mucosa	Colon
45	chr16:74332600-74333600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:74332600-74333600	Genic enhancers	HMEC	breast
47	chr16:74332600-74333800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:74332600-74333800	Weak transcription	Fetal Kidney	kidney
49	chr16:74332600-74334000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:74332600-74334000	Genic enhancers	A549	lung

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