Variant report

Variant	rs4781163
Chromosome Location	chr16:12010404-12010405
allele	A/C
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	RCOR1	chr16:12009612-12011029	HepG2	liver:	n/a	n/a
2	SIN3AK20	chr16:12010404-12010781	A549	lung:	n/a	n/a
3	ELF1	chr16:12009525-12010837	MCF-7	breast:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
4	JUND	chr16:12009812-12010941	HepG2	liver:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
5	SRF	chr16:12009608-12010405	MCF-7	breast:	n/a	n/a
6	EP300	chr16:12009221-12010444	SK-N-SH	brain:	n/a	chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
7	POLR2A	chr16:12007910-12010814	MCF10A-Er-Src	breast:	n/a	n/a
8	MXI1	chr16:12008090-12010945	Hela-S3	cervix:	n/a	n/a
9	REST	chr16:12009535-12010729	HepG2	liver:	n/a	chr16:12009832-12009845
10	TBL1XR1	chr16:12009667-12010889	K562	blood:	n/a	n/a
11	ELF1	chr16:12009393-12010517	HCT-116	colon:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
12	JUND	chr16:12009601-12010942	MCF-7	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
13	EP300	chr16:12009662-12010815	K562	blood:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
14	MAZ	chr16:12009094-12010422	GM12878	blood:	n/a	chr16:12009121-12009128 chr16:12009120-12009129 chr16:12010123-12010134 chr16:12009118-12009127 chr16:12009621-12009631
15	POLR2A	chr16:12010366-12010864	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr16:12008393-12010999	HepG2	liver:	n/a	n/a
17	SP1	chr16:12009500-12010986	A549	lung:	n/a	chr16:12009856-12009866 chr16:12009857-12009866 chr16:12010082-12010096
18	FOS	chr16:12010389-12010867	MCF10A-Er-Src	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010578-12010589
19	POLR2A	chr16:12009084-12010433	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr16:12010380-12010530	Hela-S3	cervix:	n/a	n/a
21	SETDB1	chr16:12009649-12010600	K562	blood:	n/a	chr16:12010058-12010082 chr16:12010011-12010035 chr16:12009964-12009988 chr16:12009982-12009991
22	MAFK	chr16:12010354-12010898	HepG2	liver:	n/a	n/a
23	EP300	chr16:12009622-12010917	A549	lung:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
24	HNF4G	chr16:12009656-12010858	HepG2	liver:	n/a	chr16:12009871-12009887 chr16:12009875-12009882 chr16:12009871-12009893 chr16:12010025-12010037
25	SRF	chr16:12009593-12010946	MCF-7	breast:	n/a	n/a
26	RAD21	chr16:12010087-12010769	HepG2	liver:	n/a	chr16:12010127-12010136 chr16:12010137-12010151
27	POLR2A	chr16:12007979-12010407	GM12892	blood:	n/a	n/a
28	MBD4	chr16:12009689-12011005	HepG2	liver:	n/a	n/a
29	MBD4	chr16:12009554-12010972	HepG2	liver:	n/a	n/a
30	CEBPB	chr16:12009656-12010954	Hela-S3	cervix:	n/a	n/a
31	SP1	chr16:12009547-12010979	A549	lung:	n/a	chr16:12009856-12009866 chr16:12009857-12009866 chr16:12010082-12010096
32	PML	chr16:12009517-12010526	GM12878	blood:	n/a	n/a
33	HA-E2F1	chr16:12009704-12010874	MCF-7	breast:	n/a	chr16:12009776-12009786 chr16:12010644-12010652 chr16:12010643-12010653 chr16:12010645-12010652 chr16:12009770-12009780 chr16:12010644-12010652 chr16:12009773-12009783
34	POLR2A	chr16:12009310-12010507	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr16:12008311-12010849	IMR90	lung:	n/a	n/a
36	REST	chr16:12009575-12010985	A549	lung:	n/a	chr16:12009832-12009845
37	MAX	chr16:12008210-12010904	Hela-S3	cervix:	n/a	chr16:12009121-12009128 chr16:12009120-12009129 chr16:12008343-12008354 chr16:12010123-12010134 chr16:12009118-12009127 chr16:12009621-12009631
38	STAT3	chr16:12010295-12010894	MCF10A-Er-Src	breast:	n/a	chr16:12010576-12010585
39	POLR2A	chr16:12009554-12010460	K562	blood:	n/a	n/a
40	TCF12	chr16:12009398-12011038	A549	lung:	n/a	n/a
41	RCOR1	chr16:12009507-12010673	K562	blood:	n/a	n/a
42	POLR2A	chr16:12007278-12010747	PBDE	blood:	n/a	n/a
43	STAT3	chr16:12010380-12010720	MCF10A-Er-Src	breast:	n/a	chr16:12010576-12010585
44	RFX5	chr16:12009606-12010803	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr16:12009499-12010988	HepG2	liver:	n/a	n/a
46	SMC3	chr16:12009660-12010970	Hela-S3	cervix:	n/a	chr16:12010098-12010105 chr16:12010122-12010136
47	POLR2A	chr16:12009602-12010861	HepG2	liver:	n/a	n/a
48	BACH1	chr16:12010242-12010754	H1-hESC	embryonic stem cell:	n/a	chr16:12010574-12010588
49	SIN3A	chr16:12008375-12010576	H1-hESC	embryonic stem cell:	n/a	chr16:12009153-12009166 chr16:12009980-12009989
50	JUND	chr16:12009594-12010878	HepG2	liver:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589

No.	Distal block	Cell Line	Cell type
1	chr10:101379675..101380180-chr16:12009652..12010648,2	Hela-S3	cervix:
2	chr16:11835219..11836957-chr16:12010044..12011553,2	MCF-7	breast:
3	chr16:11835593..11837984-chr16:12009045..12011349,2	K562	blood:
4	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
5	chr16:11889469..11891900-chr16:12008639..12011975,4	MCF-7	breast:
6	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
7	chr16:12010326..12012796-chr16:12069017..12071833,3	MCF-7	breast:
8	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
9	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
10	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
11	chr16:10710065..10712953-chr16:12010240..12012086,2	MCF-7	breast:
12	chr16:12007951..12010484-chr17:59476175..59479111,2	MCF-7	breast:
13	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
14	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
15	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
16	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
17	chr16:11439089..11440838-chr16:12008767..12010529,2	K562	blood:
18	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000266163	TF binding region
ENSG00000267131	Chromatin interaction
ENSG00000155287	Chromatin interaction
ENSG00000048471	Chromatin interaction
ENSG00000175643	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000262420	Chromatin interaction
ENSG00000263307	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000048462	Chromatin interaction
ENSG00000122299	Chromatin interaction

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

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

rs_ID	r²[population]
rs4780405	1.00[AMR][1000 genomes]
rs4781167	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv974848	chr16:12005053-12020022	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	esv3410856	chr16:12007876-12010424	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
6	esv3518112	chr16:12008201-12011049	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3518113	chr16:12008201-12011049	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv3408224	chr16:12008276-12010824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv519892	chr16:12009781-12010444	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv524025	chr16:12009781-12016919	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12007200-12010600	Active TSS	A549	lung
2	chr16:12007400-12010600	Active TSS	Esophagus	oesophagus
3	chr16:12007400-12010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:12007600-12010600	Active TSS	Aorta	Aorta
5	chr16:12007800-12010600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:12007800-12010600	Active TSS	Pancreas	Pancrea
7	chr16:12008000-12010600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr16:12008000-12010600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:12008000-12010600	Active TSS	Fetal Intestine Small	intestine
10	chr16:12008000-12010600	Active TSS	Psoas Muscle	Psoas
11	chr16:12008000-12010600	Active TSS	Right Ventricle	heart
12	chr16:12008000-12010800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr16:12008000-12010800	Active TSS	NHLF	lung
14	chr16:12008000-12011000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr16:12008200-12010600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:12008200-12010600	Active TSS	HSMM	muscle
17	chr16:12008200-12010800	Active TSS	Stomach Mucosa	stomach
18	chr16:12008400-12010600	Active TSS	Fetal Kidney	kidney
19	chr16:12008400-12010600	Active TSS	Rectal Smooth Muscle	rectum
20	chr16:12008400-12010600	Active TSS	NHDF-Ad	bronchial
21	chr16:12008600-12010600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:12008600-12010600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:12008600-12010600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr16:12009400-12010600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr16:12009800-12010600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:12009800-12010600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:12010000-12010600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr16:12010000-12010600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr16:12010000-12010600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr16:12010000-12010800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr16:12010000-12010800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:12010200-12010600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr16:12010200-12010600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr16:12010200-12010600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:12010200-12010600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:12010200-12010600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr16:12010200-12010600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr16:12010200-12010600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr16:12010200-12010600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr16:12010200-12010600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:12010200-12010600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr16:12010200-12010600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr16:12010200-12010600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:12010200-12010600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:12010200-12010600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr16:12010200-12010600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:12010200-12010600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr16:12010200-12010600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:12010200-12010600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:12010200-12010600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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