Variant report

Variant	rs16987894
Chromosome Location	chr2:20811178-20811179
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	SP1	chr2:20810665-20811608	HepG2	liver:	n/a	chr2:20811485-20811492
2	ELF1	chr2:20811042-20811392	K562	blood:	n/a	n/a
3	MAX	chr2:20810410-20812157	HepG2	liver:	n/a	chr2:20811266-20811275
4	MAX	chr2:20810545-20811768	HepG2	liver:	n/a	chr2:20811266-20811275
5	JUND	chr2:20811067-20811493	HepG2	liver:	n/a	n/a
6	TCF12	chr2:20811042-20811475	HepG2	liver:	n/a	n/a
7	JUND	chr2:20810766-20811646	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:20810948-20811590	HUVEC	blood vessel:	n/a	n/a
9	REST	chr2:20811064-20811346	K562	blood:	n/a	chr2:20811262-20811282 chr2:20811267-20811276 chr2:20811262-20811282 chr2:20811268-20811282 chr2:20811263-20811281 chr2:20811274-20811287
10	EP300	chr2:20810709-20811601	HepG2	liver:	n/a	chr2:20811080-20811093
11	MAX	chr2:20810978-20811367	K562	blood:	n/a	chr2:20811266-20811275
12	POLR2A	chr2:20810895-20811521	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:20811129-20811425	HepG2	liver:	n/a	n/a
14	MAX	chr2:20810711-20811616	HepG2	liver:	n/a	chr2:20811266-20811275
15	JUND	chr2:20810879-20811514	HepG2	liver:	n/a	n/a
16	MXI1	chr2:20810695-20811555	HepG2	liver:	n/a	n/a
17	E2F6	chr2:20811126-20811355	K562	blood:	n/a	n/a
18	FOXA2	chr2:20810767-20811521	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:20810510-20811771	HepG2	liver:	n/a	n/a
20	GATA2	chr2:20810876-20811456	HUVEC	blood vessel:	n/a	chr2:20811257-20811267
21	ZBTB7A	chr2:20811029-20811570	HepG2	liver:	n/a	chr2:20811450-20811458
22	TEAD4	chr2:20811038-20811472	K562	blood:	n/a	n/a
23	HDAC2	chr2:20810723-20811704	HepG2	liver:	n/a	n/a
24	MAZ	chr2:20810676-20811787	IMR90	lung:	n/a	chr2:20811266-20811275
25	ELF1	chr2:20811022-20811462	HepG2	liver:	n/a	n/a
26	HEY1	chr2:20810855-20811612	HepG2	liver:	n/a	n/a
27	CHD2	chr2:20811103-20811613	HepG2	liver:	n/a	n/a
28	CTCF	chr2:20811160-20811310	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:20810683-20811549	HepG2	liver:	n/a	n/a
30	FOSL2	chr2:20810770-20811756	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:20811047-20811371	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:20811072-20811453	HepG2	liver:	n/a	n/a
33	FOXP2	chr2:20811102-20811403	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr2:20810880-20811558	HUVEC	blood vessel:	n/a	n/a
35	RAD21	chr2:20810883-20811464	HepG2	liver:	n/a	chr2:20811451-20811461 chr2:20811232-20811251
36	RAD21	chr2:20810933-20811524	IMR90	lung:	n/a	chr2:20811451-20811461 chr2:20811232-20811251
37	POLR2A	chr2:20810955-20811543	HepG2	liver:	n/a	n/a
38	YY1	chr2:20811055-20811651	HepG2	liver:	n/a	chr2:20811326-20811337
39	POLR2A	chr2:20810805-20811499	HepG2	liver:	n/a	n/a
40	RXRA	chr2:20811015-20811520	HepG2	liver:	n/a	chr2:20811221-20811230
41	FOXA1	chr2:20810703-20811525	HepG2	liver:	n/a	n/a
42	ELF1	chr2:20810682-20811472	HepG2	liver:	n/a	n/a
43	TEAD4	chr2:20811121-20811473	HepG2	liver:	n/a	n/a
44	CTCF	chr2:20811160-20811310	HCPEpiC	choroid plexus:	n/a	n/a
45	RCOR1	chr2:20810679-20811980	HepG2	liver:	n/a	n/a
46	CBX3	chr2:20811022-20811424	K562	blood:	n/a	n/a
47	FOXA1	chr2:20810766-20811659	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:20810952-20811521	HUVEC	blood vessel:	n/a	n/a
49	ARID3A	chr2:20810713-20811576	HepG2	liver:	n/a	n/a
50	MBD4	chr2:20810557-20811569	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20810389..20812991-chr2:20823775..20826259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233416	TF binding region
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16987895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16987904	1.00[EUR][1000 genomes]
rs16987937	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16987938	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16987942	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59056928	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59944090	1.00[EUR][1000 genomes]
rs60714387	1.00[EUR][1000 genomes]
rs73916923	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20803200-20814000	Weak transcription	HSMM	muscle
2	chr2:20804400-20813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:20805200-20813600	Weak transcription	HMEC	breast
4	chr2:20805200-20813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:20805200-20814000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:20805200-20816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:20808400-20811800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:20808400-20811800	Enhancers	Fetal Intestine Large	intestine
9	chr2:20808400-20811800	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:20808400-20813600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:20808400-20814200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:20808400-20816400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:20808400-20816600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:20808400-20816800	Enhancers	Adipose Nuclei	Adipose
15	chr2:20808400-20819600	Enhancers	Fetal Muscle Leg	muscle
16	chr2:20808600-20811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:20808600-20812000	Enhancers	Fetal Stomach	stomach
18	chr2:20808600-20812000	Enhancers	Left Ventricle	heart
19	chr2:20808600-20812000	Enhancers	Right Atrium	heart
20	chr2:20808600-20812000	Enhancers	Right Ventricle	heart
21	chr2:20808600-20812000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:20808600-20812400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:20808600-20818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:20808600-20819400	Enhancers	Brain Anterior Caudate	brain
25	chr2:20808600-20819800	Enhancers	Brain Substantia Nigra	brain
26	chr2:20808800-20811800	Enhancers	NHLF	lung
27	chr2:20808800-20812000	Enhancers	Ovary	ovary
28	chr2:20809000-20817200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:20809200-20811600	Enhancers	K562	blood
30	chr2:20809200-20811800	Enhancers	Liver	Liver
31	chr2:20809200-20811800	Enhancers	Fetal Intestine Small	intestine
32	chr2:20809200-20812000	Enhancers	Stomach Mucosa	stomach
33	chr2:20809200-20813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:20809400-20811400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:20809400-20816200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:20809600-20811200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:20809600-20812600	Weak transcription	Fetal Brain Female	brain
38	chr2:20809600-20813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:20809600-20813400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:20809600-20813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:20809600-20813800	Weak transcription	NHEK	skin
42	chr2:20809600-20814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:20809600-20814200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:20809600-20814200	Weak transcription	Brain Germinal Matrix	brain
45	chr2:20809600-20816600	Weak transcription	Fetal Thymus	thymus
46	chr2:20809600-20819200	Weak transcription	Primary T cells from cord blood	blood
47	chr2:20809800-20811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:20809800-20813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:20809800-20814000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:20809800-20815000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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