Variant report

Variant	rs8046786
Chromosome Location	chr16:70319484-70319485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:70319232-70319494	K562	blood:	n/a	chr16:70319407-70319418
2	POLR2A	chr16:70317754-70320032	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70319296-70319846	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr16:70319312-70319554	HCT-116	colon:	n/a	n/a
5	CEBPB	chr16:70319189-70319504	MCF-7	breast:	n/a	chr16:70319407-70319418
6	CEBPB	chr16:70319314-70319502	HepG2	liver:	n/a	chr16:70319407-70319418
7	POLR2A	chr16:70319130-70319846	K562	blood:	n/a	n/a
8	CEBPB	chr16:70319255-70319545	Hela-S3	cervix:	n/a	chr16:70319407-70319418
9	CEBPB	chr16:70319261-70319520	K562	blood:	n/a	chr16:70319407-70319418
10	POLR2A	chr16:70318458-70320026	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr16:70319336-70319496	H1-hESC	embryonic stem cell:	n/a	chr16:70319407-70319418
12	CEBPB	chr16:70319231-70319540	IMR90	lung:	n/a	chr16:70319407-70319418
13	POLR2A	chr16:70319171-70319825	K562	blood:	n/a	n/a
14	POLR2A	chr16:70318370-70320608	K562	blood:	n/a	n/a
15	CEBPB	chr16:70319221-70319564	HepG2	liver:	n/a	chr16:70319407-70319418
16	CEBPB	chr16:70319259-70319509	HepG2	liver:	n/a	chr16:70319407-70319418

No.	Distal block	Cell Line	Cell type
1	chr16:70299010..70300610-chr16:70319177..70321457,2	K562	blood:
2	chr16:70302704..70305268-chr16:70318422..70320250,2	K562	blood:
3	chr16:70297512..70300510-chr16:70319177..70321494,2	K562	blood:
4	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
5	chr16:70194744..70197032-chr16:70317749..70321532,3	K562	blood:
6	chr16:70285551..70287334-chr16:70318169..70320584,3	K562	blood:

Variant related genes	Relation type
DDX19B	TF binding region
ENSG00000090861	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000265230	Chromatin interaction
ENSG00000223496	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs11859191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859870	0.84[AFR][1000 genomes]
rs11861097	0.84[AMR][1000 genomes]
rs11861651	1.00[AMR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863128	0.91[AFR][1000 genomes]
rs11863943	1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs16970121	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16970133	1.00[YRI][hapmap]
rs16970147	1.00[EUR][1000 genomes]
rs16970149	0.81[YRI][hapmap]
rs16970153	0.81[YRI][hapmap]
rs16970302	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs28438754	1.00[AMR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3972077	1.00[AMR][1000 genomes]
rs3972090	0.92[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55936739	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55963712	0.84[AMR][1000 genomes]
rs56050266	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56077083	1.00[AMR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56836664	0.81[AFR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs57492770	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58434182	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58467558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59260159	0.81[AFR][1000 genomes]
rs59272950	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs60058920	0.92[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs6499307	0.84[AMR][1000 genomes]
rs6499312	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7189535	0.84[AMR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195086	1.00[EUR][1000 genomes]
rs7195104	0.81[YRI][hapmap]
rs7198871	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199346	1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7203761	1.00[YRI][hapmap]
rs7203772	0.87[YRI][hapmap]
rs7205918	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206347	1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8055675	0.84[AMR][1000 genomes]
rs8056048	1.00[AMR][1000 genomes]
rs8056196	0.84[AMR][1000 genomes]
rs8056811	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
4	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:70286000-70320400	Strong transcription	Osteobl	bone
7	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
13	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
18	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:70286400-70319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:70286400-70319800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:70286400-70320000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr16:70286400-70320000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:70286400-70320400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:70287200-70321800	Weak transcription	Right Atrium	heart
25	chr16:70287400-70320000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:70288600-70320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:70290200-70321600	Strong transcription	Fetal Intestine Small	intestine
28	chr16:70290600-70320600	Strong transcription	HepG2	liver
29	chr16:70291800-70319600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:70292000-70319800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:70292200-70319800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:70292200-70319800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:70296400-70319800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:70301200-70319800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:70306600-70320000	Strong transcription	HMEC	breast
36	chr16:70309800-70319600	Strong transcription	Brain Anterior Caudate	brain
37	chr16:70309800-70319800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:70309800-70320400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:70310200-70319600	Strong transcription	Hela-S3	cervix
40	chr16:70310200-70320000	Strong transcription	NHEK	skin
41	chr16:70311000-70319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:70311000-70322600	Weak transcription	Fetal Heart	heart
43	chr16:70311400-70321800	Weak transcription	Fetal Brain Male	brain
44	chr16:70311600-70321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:70311600-70322800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr16:70312000-70320000	Strong transcription	Fetal Brain Female	brain
47	chr16:70313000-70321400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:70314400-70319600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:70314400-70322200	Weak transcription	Small Intestine	intestine
50	chr16:70314800-70321800	Weak transcription	Psoas Muscle	Psoas

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