Variant report

Variant	rs8046916
Chromosome Location	chr16:72047751-72047752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:72047671-72048944	K562	blood:	n/a	n/a
2	POLR2A	chr16:72047704-72048022	GM12878	blood:	n/a	n/a
3	HDAC2	chr16:72047588-72048151	K562	blood:	n/a	n/a
4	CEBPD	chr16:72047742-72048249	K562	blood:	n/a	n/a
5	TEAD4	chr16:72047526-72048239	K562	blood:	n/a	n/a
6	POLR2A	chr16:72047550-72048288	K562	blood:	n/a	n/a
7	GATA1	chr16:72047535-72048673	PBDE	blood:	n/a	chr16:72048022-72048038
8	TBL1XR1	chr16:72047376-72048163	K562	blood:	n/a	n/a
9	ZBTB7A	chr16:72047739-72048051	K562	blood:	n/a	n/a
10	POLR2A	chr16:72047487-72047907	HL-60	blood:	n/a	n/a
11	MAFF	chr16:72047745-72048239	K562	blood:	n/a	n/a
12	CBX3	chr16:72047039-72048216	K562	blood:	n/a	n/a
13	TAL1	chr16:72047745-72048209	K562	blood:	n/a	n/a
14	POLR2A	chr16:72047108-72048036	Hela-S3	cervix:	n/a	n/a
15	RCOR1	chr16:72047650-72048140	K562	blood:	n/a	n/a
16	NR2F2	chr16:72047603-72048347	K562	blood:	n/a	n/a
17	MYC	chr16:72047701-72048320	K562	blood:	n/a	chr16:72047854-72047864
18	E2F6	chr16:72046420-72048097	K562	blood:	n/a	n/a
19	REST	chr16:72047661-72048074	PFSK-1	brain:	n/a	n/a
20	EGR1	chr16:72047662-72048291	K562	blood:	n/a	n/a
21	STAT3	chr16:72047237-72047928	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr16:72047194-72047794	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr16:72047689-72048159	K562	blood:	n/a	n/a
24	POLR2A	chr16:72047019-72048462	K562	blood:	n/a	n/a
25	CEBPD	chr16:72047737-72048261	K562	blood:	n/a	n/a
26	POLR2A	chr16:72047682-72048197	K562	blood:	n/a	n/a
27	POLR2A	chr16:72045322-72048851	PBDE	blood:	n/a	n/a
28	UBTF	chr16:72047737-72048225	K562	blood:	n/a	n/a
29	HDAC2	chr16:72047700-72048069	K562	blood:	n/a	n/a
30	MAZ	chr16:72047683-72048218	K562	blood:	n/a	chr16:72047854-72047864
31	ARID3A	chr16:72047727-72048122	K562	blood:	n/a	n/a
32	MAFK	chr16:72047680-72048083	K562	blood:	n/a	n/a
33	MAX	chr16:72047651-72048373	K562	blood:	n/a	chr16:72047854-72047864
34	TEAD4	chr16:72047699-72048234	K562	blood:	n/a	n/a
35	STAT3	chr16:72046993-72048500	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
2	chr16:71927973..71929865-chr16:72045946..72047910,3	MCF-7	breast:
3	chr1:231002470..231005143-chr16:72046924..72048591,2	MCF-7	breast:

No data

Variant related genes	Relation type
DHODH	TF binding region
ENSG00000182149	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000140830	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000119280	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1025068	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10492815	1.00[GIH][hapmap]
rs11075913	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12446654	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs150617	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs152828	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs217176	1.00[JPT][hapmap]
rs2550043	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs30433	0.86[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs3213419	1.00[YRI][hapmap]
rs3213423	1.00[YRI][hapmap]
rs7185601	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9929256	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72049600	Weak transcription	Aorta	Aorta
2	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
3	chr16:72043200-72047800	Weak transcription	Thymus	Thymus
4	chr16:72043200-72048600	Weak transcription	Primary B cells from cord blood	blood
5	chr16:72043200-72049200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:72043200-72049400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:72043200-72049400	Weak transcription	Brain Substantia Nigra	brain
8	chr16:72043200-72049400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:72043200-72049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:72043200-72049600	Weak transcription	Fetal Kidney	kidney
11	chr16:72043200-72049800	Weak transcription	Gastric	stomach
12	chr16:72043200-72051000	Weak transcription	Fetal Lung	lung
13	chr16:72043200-72051800	Weak transcription	Fetal Thymus	thymus
14	chr16:72043200-72052200	Weak transcription	Brain Angular Gyrus	brain
15	chr16:72043200-72053400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:72043200-72054000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:72043200-72054600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:72043200-72054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:72043200-72054800	Weak transcription	Pancreas	Pancrea
20	chr16:72043200-72055000	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:72043200-72055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:72043200-72055200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:72043200-72056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:72043200-72056600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:72043200-72057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:72043200-72057800	Weak transcription	NHDF-Ad	bronchial
27	chr16:72043200-72061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:72043200-72062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr16:72043400-72051000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:72043600-72050000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:72043600-72075200	Weak transcription	Fetal Brain Male	brain
34	chr16:72043800-72047800	Weak transcription	Colonic Mucosa	Colon
35	chr16:72043800-72049200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:72043800-72051200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:72043800-72056800	Weak transcription	HSMM	muscle
38	chr16:72044000-72054800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:72044000-72057400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr16:72044400-72049800	Strong transcription	A549	lung
41	chr16:72045200-72048200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:72045600-72053400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:72045600-72059400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:72045600-72060200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:72045600-72060400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:72045600-72060600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:72045600-72062200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:72045600-72062400	Strong transcription	Dnd41	blood
49	chr16:72045800-72047800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:72045800-72052600	Strong transcription	Fetal Intestine Small	intestine

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