Variant report

Variant	rs9921376
Chromosome Location	chr16:30367820-30367821
allele	A/G
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	POLR2A	chr16:30366150-30367970	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:30366368-30369039	K562	blood:	n/a	n/a
3	MAX	chr16:30366004-30368463	A549	lung:	n/a	chr16:30366283-30366292 chr16:30368180-30368187 chr16:30367527-30367536 chr16:30366756-30366765 chr16:30366283-30366292 chr16:30366283-30366292 chr16:30368179-30368188 chr16:30366282-30366293 chr16:30367525-30367540
4	POLR2A	chr16:30365903-30368374	GM12892	blood:	n/a	n/a
5	E2F6	chr16:30366404-30367881	H1-hESC	embryonic stem cell:	n/a	chr16:30366748-30366757 chr16:30366779-30366790 chr16:30366732-30366743 chr16:30367274-30367285 chr16:30366746-30366755 chr16:30367274-30367285 chr16:30367274-30367285
6	HCFC1	chr16:30365561-30368232	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:30366144-30368980	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr16:30365895-30367998	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr16:30366209-30368005	PFSK-1	brain:	n/a	n/a
10	EBF1	chr16:30367763-30368103	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:30366277-30367990	K562	blood:	n/a	n/a
12	PML	chr16:30365948-30368023	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:30367798-30368040	MCF-7	breast:	n/a	n/a
14	POLR2A	chr16:30366166-30367917	MCF-7	breast:	n/a	n/a
15	POLR2A	chr16:30366251-30368204	U87	brain:	n/a	n/a
16	POLR2A	chr16:30365719-30368371	K562	blood:	n/a	n/a
17	MYBL2	chr16:30365570-30367820	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:30366107-30368377	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr16:30366257-30368058	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr16:30365748-30368408	K562	blood:	n/a	n/a
21	ELF1	chr16:30366159-30368110	HCT-116	colon:	n/a	chr16:30366646-30366655 chr16:30366823-30366836 chr16:30366645-30366656 chr16:30366377-30366389 chr16:30366645-30366656
22	POLR2A	chr16:30366371-30368111	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:30365726-30368332	U87	brain:	n/a	n/a
24	POLR2A	chr16:30365846-30367907	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr16:30360110-30369693	HepG2	liver:	n/a	n/a
26	MAX	chr16:30365806-30367847	HepG2	liver:	n/a	chr16:30366283-30366292 chr16:30367527-30367536 chr16:30366756-30366765 chr16:30366283-30366292 chr16:30366283-30366292 chr16:30366282-30366293 chr16:30367525-30367540
27	MBD4	chr16:30366278-30367868	HepG2	liver:	n/a	n/a
28	MAX	chr16:30366083-30367981	H1-hESC	embryonic stem cell:	n/a	chr16:30366283-30366292 chr16:30367527-30367536 chr16:30366756-30366765 chr16:30366283-30366292 chr16:30366283-30366292 chr16:30366282-30366293 chr16:30367525-30367540
29	POLR2A	chr16:30366268-30368284	HL-60	blood:	n/a	n/a
30	POLR2A	chr16:30366329-30367855	HEK293	kidney:	n/a	n/a
31	FOSL2	chr16:30365138-30367884	HepG2	liver:	n/a	chr16:30366747-30366756 chr16:30365766-30365777 chr16:30365838-30365847
32	POLR2A	chr16:30366267-30367951	GM12891	blood:	n/a	n/a
33	POLR2A	chr16:30366257-30368366	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr16:30365939-30368340	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr16:30365726-30368558	K562	blood:	n/a	n/a
36	POLR2A	chr16:30366298-30368019	HCT-116	colon:	n/a	n/a
37	POLR2A	chr16:30366232-30368204	U87	brain:	n/a	n/a
38	POLR2A	chr16:30366261-30368048	HCT-116	colon:	n/a	n/a
39	POLR2A	chr16:30366032-30367928	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr16:30367739-30368050	GM12878	blood:	n/a	n/a
41	POLR2A	chr16:30361391-30369063	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:30365980-30367884	HepG2	liver:	n/a	n/a
43	NFATC1	chr16:30366264-30367919	GM12878	blood:	n/a	n/a
44	ELF1	chr16:30366013-30368179	GM12878	blood:	n/a	chr16:30366646-30366655 chr16:30366823-30366836 chr16:30366645-30366656 chr16:30366377-30366389 chr16:30366645-30366656
45	POLR2A	chr16:30365874-30368179	GM12892	blood:	n/a	n/a
46	POLR2A	chr16:30365817-30371152	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:30365656-30368338	U87	brain:	n/a	n/a
48	POLR2A	chr16:30367811-30367829	MCF-7	breast:	n/a	n/a
49	POLR2A	chr16:30365837-30368038	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr16:30366173-30368529	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30365313..30367848-chr16:30618924..30623102,3	MCF-7	breast:
2	chr16:30367168..30369191-chr16:30427259..30429781,3	MCF-7	breast:
3	chr16:30352329..30355264-chr16:30366983..30369015,2	MCF-7	breast:
4	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
5	chr16:30366631..30368676-chr16:30418622..30421183,2	K562	blood:
6	chr16:30365100..30369727-chr16:30387622..30391726,6	MCF-7	breast:
7	chr16:30366343..30369642-chr16:30417468..30420757,5	MCF-7	breast:
8	chr16:30365182..30368523-chr16:30417932..30420526,3	K562	blood:
9	chr16:30365632..30367992-chr16:30667854..30670358,2	MCF-7	breast:
10	chr16:30107356..30109968-chr16:30365959..30368082,2	MCF-7	breast:
11	chr16:30366587..30368630-chr16:30455863..30457580,2	MCF-7	breast:
12	chr16:30364739..30368463-chr16:30416926..30421783,8	MCF-7	breast:
13	chr16:30364152..30368341-chr16:30388051..30392327,13	K562	blood:
14	chr16:30134488..30136280-chr16:30366948..30369279,2	K562	blood:
15	chr16:30366000..30368960-chr16:68270888..68273271,2	MCF-7	breast:
16	chr16:30076995..30078721-chr16:30365151..30368366,3	MCF-7	breast:
17	chr16:30364024..30368341-chr16:30387690..30394486,12	K562	blood:
18	chr16:30365775..30369229-chr16:30392373..30394486,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYLPF-1	chr16:30367614-30367848	ENSG00000260219.1

Variant related genes	Relation type
CD2BP2	TF binding region
ENSG00000261469	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000090238	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000250616	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000156853	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58223373	1.00[AMR][1000 genomes]
rs59391245	1.00[AMR][1000 genomes]
rs61764205	1.00[AMR][1000 genomes]
rs6565181	1.00[AFR][1000 genomes]
rs7190535	1.00[ASW][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015017	1.00[AMR][1000 genomes]
rs8051182	1.00[AMR][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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	229 gene(s)	inside rSNPs	diseases
3	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30364400-30371800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:30365400-30368000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30365600-30368000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:30365600-30368000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr16:30365600-30368000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:30365800-30368000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr16:30366800-30368000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr16:30366800-30368000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr16:30366800-30368000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr16:30366800-30368000	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr16:30366800-30368000	Flanking Active TSS	Stomach Mucosa	stomach
12	chr16:30366800-30368000	Flanking Active TSS	Dnd41	blood
13	chr16:30366800-30368000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr16:30366800-30368200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:30366800-30368200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr16:30366800-30368400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr16:30367000-30368000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:30367000-30368000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:30367000-30368000	Flanking Active TSS	Liver	Liver
20	chr16:30367000-30368000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr16:30367000-30368000	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr16:30367000-30368000	Flanking Active TSS	Colonic Mucosa	Colon
23	chr16:30367000-30368400	Enhancers	Fetal Heart	heart
24	chr16:30367200-30368000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr16:30367200-30368000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr16:30367200-30368000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr16:30367200-30368200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:30367200-30368600	Flanking Active TSS	Hela-S3	cervix
29	chr16:30367200-30371200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:30367400-30368000	Enhancers	Primary B cells from peripheral blood	blood
31	chr16:30367400-30368000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:30367400-30368000	Enhancers	Placenta	Placenta
33	chr16:30367400-30368000	Enhancers	Spleen	Spleen
34	chr16:30367400-30368200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr16:30367400-30368200	Enhancers	Primary T cells from cord blood	blood
36	chr16:30367400-30368200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr16:30367400-30368200	Enhancers	Left Ventricle	heart
38	chr16:30367400-30368200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr16:30367400-30368400	Enhancers	Fetal Brain Male	brain
40	chr16:30367400-30368400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr16:30367400-30368400	Weak transcription	Thymus	Thymus
42	chr16:30367400-30368600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:30367400-30368600	Enhancers	NHDF-Ad	bronchial
44	chr16:30367400-30368800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:30367400-30377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:30367400-30377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:30367600-30368000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:30367600-30368000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr16:30367600-30368000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:30367600-30368000	Enhancers	Duodenum Smooth Muscle	Duodenum

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