Variant report

Variant	rs6565181
Chromosome Location	chr16:30366387-30366388
allele	C/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	CTBP2	chr16:30366268-30367308	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr16:30366075-30367032	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr16:30365977-30367347	HepG2	liver:	n/a	n/a
4	EGR1	chr16:30366226-30367361	K562	blood:	n/a	chr16:30366722-30366736 chr16:30366304-30366317 chr16:30366647-30366656 chr16:30366299-30366321 chr16:30366757-30366771
5	ELK1	chr16:30366322-30367248	K562	blood:	n/a	chr16:30366827-30366836 chr16:30366827-30366836
6	FOXA2	chr16:30366380-30366956	A549	lung:	n/a	n/a
7	POLR2A	chr16:30366150-30367970	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:30366368-30369039	K562	blood:	n/a	n/a
9	JUND	chr16:30366230-30367477	A549	lung:	n/a	chr16:30366747-30366756
10	TAF1	chr16:30366283-30366875	H1-neurons	neurons:	n/a	n/a
11	PML	chr16:30365941-30367409	K562	blood:	n/a	n/a
12	HEY1	chr16:30366360-30367433	HepG2	liver:	n/a	chr16:30366746-30366755 chr16:30366748-30366757
13	YY1	chr16:30366186-30367373	ECC-1	luminal epithelium:	n/a	chr16:30366307-30366321
14	TBP	chr16:30366241-30367355	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr16:30366338-30367368	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:30366307-30367450	Raji	blood:	n/a	n/a
17	TCF12	chr16:30366381-30367555	A549	lung:	n/a	chr16:30367370-30367379
18	POLR2A	chr16:30366127-30367638	GM12878	blood:	n/a	n/a
19	TEAD4	chr16:30366292-30367494	HepG2	liver:	n/a	n/a
20	YY1	chr16:30366321-30367422	SK-N-SH	brain:	n/a	n/a
21	TAF1	chr16:30366042-30367477	ECC-1	luminal epithelium:	n/a	n/a
22	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
23	STAT5A	chr16:30365704-30367771	GM12878	blood:	n/a	chr16:30367034-30367042 chr16:30366422-30366430 chr16:30366058-30366070
24	POLR2A	chr16:30365903-30368374	GM12892	blood:	n/a	n/a
25	ZNF263	chr16:30366352-30367270	HEK293-T-REx	kidney:	n/a	chr16:30366763-30366784
26	HCFC1	chr16:30365561-30368232	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr16:30365855-30367651	H1-neurons	neurons:	n/a	n/a
28	GABPA	chr16:30366365-30366903	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAZ	chr16:30366179-30367325	HepG2	liver:	n/a	chr16:30366283-30366292 chr16:30366756-30366765 chr16:30366283-30366292 chr16:30366283-30366292 chr16:30366282-30366293
30	YY1	chr16:30366373-30366926	GM12892	blood:	n/a	n/a
31	POLR2A	chr16:30366144-30368980	SK-N-MC	brain:	n/a	n/a
32	TAF1	chr16:30366056-30367403	H1-hESC	embryonic stem cell:	n/a	n/a
33	GATA1	chr16:30366192-30367348	PBDE	blood:	n/a	n/a
34	MYC	chr16:30366342-30367506	K562	blood:	n/a	chr16:30366756-30366765
35	USF2	chr16:30366111-30366966	HepG2	liver:	n/a	chr16:30366754-30366765
36	USF2	chr16:30366099-30367412	H1-hESC	embryonic stem cell:	n/a	chr16:30366754-30366765
37	GABPA	chr16:30365588-30367804	MCF-7	breast:	n/a	n/a
38	POLR2A	chr16:30366335-30367348	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr16:30366290-30367489	ProgFib	skin:	n/a	n/a
40	POLR2A	chr16:30366126-30367603	A549	lung:	n/a	n/a
41	POLR2A	chr16:30365895-30367998	H1-neurons	neurons:	n/a	n/a
42	MAX	chr16:30365898-30367747	K562	blood:	n/a	chr16:30366283-30366292 chr16:30367527-30367536 chr16:30366756-30366765 chr16:30366283-30366292 chr16:30366283-30366292 chr16:30366282-30366293 chr16:30367525-30367540
43	ATF2	chr16:30366339-30367253	H1-hESC	embryonic stem cell:	n/a	chr16:30366746-30366757
44	POLR2A	chr16:30366209-30368005	PFSK-1	brain:	n/a	n/a
45	ELF1	chr16:30366175-30367389	HepG2	liver:	n/a	chr16:30366646-30366655 chr16:30366823-30366836 chr16:30366645-30366656 chr16:30366377-30366389 chr16:30366645-30366656
46	RUNX3	chr16:30365961-30367706	GM12878	blood:	n/a	n/a
47	NFIC	chr16:30366303-30367465	HepG2	liver:	n/a	chr16:30366545-30366573
48	TAF1	chr16:30366086-30367542	HepG2	liver:	n/a	n/a
49	USF1	chr16:30366084-30367314	SK-N-SH	brain:	n/a	n/a
50	TAF1	chr16:30366242-30367571	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30365313..30367848-chr16:30618924..30623102,3	MCF-7	breast:
2	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
3	chr16:30366042..30367681-chr16:30406512..30408947,2	MCF-7	breast:
4	chr16:30365100..30369727-chr16:30387622..30391726,6	MCF-7	breast:
5	chr16:30345336..30346987-chr16:30364992..30366777,2	K562	blood:
6	chr16:30345346..30347194-chr16:30364689..30366452,2	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	chr16:30364489..30367608-chr16:30429426..30432189,3	K562	blood:
10	chr16:30365632..30367992-chr16:30667854..30670358,2	MCF-7	breast:
11	chr16:30107356..30109968-chr16:30365959..30368082,2	MCF-7	breast:
12	chr16:30106190..30107889-chr16:30365299..30366898,2	K562	blood:
13	chr16:30364739..30368463-chr16:30416926..30421783,8	MCF-7	breast:
14	chr16:30364152..30368341-chr16:30388051..30392327,13	K562	blood:
15	chr16:30366233..30367218-chr7:66093220..66094003,2	Hela-S3	cervix:
16	chr16:30364744..30367445-chr17:58469119..58471107,2	MCF-7	breast:
17	chr16:30366000..30368960-chr16:68270888..68273271,2	MCF-7	breast:
18	chr16:30076995..30078721-chr16:30365151..30368366,3	MCF-7	breast:
19	chr16:30364024..30368341-chr16:30387690..30394486,12	K562	blood:
20	chr16:30365775..30369229-chr16:30392373..30394486,5	K562	blood:

Variant related genes	Relation type
CD2BP2	TF binding region
ENSG00000260219	TF binding region
ENSG00000270466	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000090238	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000250616	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000261469	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000170832	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7190535	0.85[AFR][1000 genomes]
rs9921376	1.00[AFR][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:127 , 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	chr16:30365400-30366400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr16:30365400-30366400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr16:30365400-30366400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr16:30365400-30366400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr16:30365400-30366400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr16:30365400-30367400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:30365400-30367600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:30365400-30367800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:30365400-30367800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr16:30365400-30368000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:30365600-30366400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr16:30365600-30366600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:30365600-30366800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:30365600-30367000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:30365600-30367000	Active TSS	NHDF-Ad	bronchial
17	chr16:30365600-30367200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr16:30365600-30367200	Active TSS	Esophagus	oesophagus
19	chr16:30365600-30367200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr16:30365600-30367400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:30365600-30367400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:30365600-30367400	Active TSS	Fetal Kidney	kidney
23	chr16:30365600-30367600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr16:30365600-30367600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr16:30365600-30367800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr16:30365600-30368000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr16:30365600-30368000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr16:30365600-30368000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:30365800-30366800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:30365800-30366800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr16:30365800-30366800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr16:30365800-30366800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:30365800-30366800	Active TSS	Stomach Mucosa	stomach
34	chr16:30365800-30366800	Active TSS	GM12878-XiMat	blood
35	chr16:30365800-30366800	Active TSS	Hela-S3	cervix
36	chr16:30365800-30366800	Active TSS	HMEC	breast
37	chr16:30365800-30366800	Active TSS	HSMM	muscle
38	chr16:30365800-30366800	Active TSS	K562	blood
39	chr16:30365800-30366800	Active TSS	NH-A	brain
40	chr16:30365800-30366800	Active TSS	NHEK	skin
41	chr16:30365800-30366800	Active TSS	NHLF	lung
42	chr16:30365800-30367000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:30365800-30367000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:30365800-30367000	Active TSS	Psoas Muscle	Psoas
45	chr16:30365800-30367000	Active TSS	Right Atrium	heart
46	chr16:30365800-30367200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:30365800-30367200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:30365800-30367200	Active TSS	Fetal Intestine Large	intestine
49	chr16:30365800-30367200	Active TSS	Gastric	stomach
50	chr16:30365800-30367400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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