Variant report

Variant	rs16841820
Chromosome Location	chr1:149856147-149856148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:149856101-149860730	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:149856036-149857107	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:149856128-149860598	GM12891	blood:	n/a	n/a
4	SIN3AK20	chr1:149855208-149857964	MCF-7	breast:	n/a	n/a
5	CHD1	chr1:149854894-149860797	IMR90	lung:	n/a	n/a
6	EP300	chr1:149856114-149857602	K562	blood:	n/a	n/a
7	MAX	chr1:149856106-149857883	A549	lung:	n/a	n/a
8	CHD2	chr1:149855227-149860558	K562	blood:	n/a	n/a
9	E2F4	chr1:149856060-149858697	MCF10A-Er-Src	breast:	n/a	chr1:149858368-149858377
10	POLR2A	chr1:149856079-149860918	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr1:149855989-149860589	U87	brain:	n/a	n/a
12	TBL1XR1	chr1:149856124-149857661	K562	blood:	n/a	n/a
13	POLR2A	chr1:149856041-149860836	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:149855265-149860844	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:149855109-149860572	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:149855998-149857854	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr1:149856138-149860555	K562	blood:	n/a	n/a
18	RCOR1	chr1:149856115-149857658	K562	blood:	n/a	n/a
19	POLR2A	chr1:149855079-149860735	PBDE	blood:	n/a	n/a
20	IRF1	chr1:149855921-149860771	K562	blood:	n/a	chr1:149859606-149859615 chr1:149858368-149858377 chr1:149859577-149859586 chr1:149860061-149860075 chr1:149859949-149859963
21	MAFK	chr1:149855958-149857234	K562	blood:	n/a	n/a
22	MYC	chr1:149856058-149857892	K562	blood:	n/a	n/a
23	TEAD4	chr1:149855971-149860688	K562	blood:	n/a	n/a
24	POLR2A	chr1:149855973-149860924	GM12878	blood:	n/a	n/a
25	SP1	chr1:149856096-149860802	A549	lung:	n/a	chr1:149860063-149860075 chr1:149858292-149858313 chr1:149860064-149860074 chr1:149860064-149860074 chr1:149860065-149860074 chr1:149859605-149859626 chr1:149860064-149860073 chr1:149860064-149860078 chr1:149858419-149858429 chr1:149860063-149860075
26	POLR2A	chr1:149856044-149860760	SK-N-SH	brain:	n/a	n/a
27	SIN3AK20	chr1:149854723-149856194	K562	blood:	n/a	n/a
28	WRNIP1	chr1:149856093-149857566	GM12878	blood:	n/a	n/a
29	MAFK	chr1:149855928-149856751	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAFF	chr1:149855628-149857664	K562	blood:	n/a	n/a
31	IRF1	chr1:149856044-149857554	K562	blood:	n/a	n/a
32	GATA1	chr1:149855381-149860460	PBDE	blood:	n/a	chr1:149859655-149859665
33	POLR2A	chr1:149854930-149863498	H1-hESC	embryonic stem cell:	n/a	n/a
34	BCLAF1	chr1:149855613-149860868	K562	blood:	n/a	chr1:149859834-149859843
35	TBL1XR1	chr1:149855996-149857744	K562	blood:	n/a	n/a
36	POLR2A	chr1:149856018-149860772	Hela-S3	cervix:	n/a	n/a
37	RFX5	chr1:149856064-149857466	K562	blood:	n/a	n/a
38	POLR2A	chr1:149855953-149860915	H1-hESC	embryonic stem cell:	n/a	n/a
39	PBX3	chr1:149856068-149856541	SK-N-SH	brain:	n/a	n/a
40	REST	chr1:149856084-149860891	H1-neurons	neurons:	n/a	chr1:149860064-149860077
41	ARID3A	chr1:149855930-149857762	K562	blood:	n/a	n/a
42	MAZ	chr1:149856078-149857636	K562	blood:	n/a	n/a
43	POLR2A	chr1:149856056-149860845	IMR90	lung:	n/a	n/a
44	BCLAF1	chr1:149854854-149860655	K562	blood:	n/a	chr1:149859834-149859843
45	PML	chr1:149856142-149860801	GM12878	blood:	n/a	n/a
46	EP300	chr1:149856116-149856856	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:149855770-149856450	K562	blood:	n/a	n/a
48	ELK1	chr1:149856045-149857721	K562	blood:	n/a	n/a
49	POLR2A	chr1:149855983-149860595	U87	brain:	n/a	n/a
50	KAP1	chr1:149855970-149857686	U2OS	brain:	n/a	n/a

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
2	chr1:149856055..149857724-chr10:75626494..75629383,2	MCF-7	breast:
3	chr1:149855129..149857498-chr5:89704322..89707412,3	MCF-7	breast:
4	chr1:149856119..149859010-chr16:28833732..28835529,2	K562	blood:
5	chr1:149855859..149860778-chr1:150121854..150124549,4	MCF-7	breast:
6	chr1:149855978..149857631-chr12:27675937..27677520,2	MCF-7	breast:
7	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
8	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
9	chr1:149854988..149857617-chr17:41463714..41465373,2	MCF-7	breast:
10	chr1:149855608..149858042-chr2:122287133..122289817,2	MCF-7	breast:
11	chr1:149855803..149857407-chr1:151236022..151238038,2	K562	blood:
12	chr1:149855825..149859735-chr1:150264985..150268023,4	MCF-7	breast:
13	chr1:59246264..59248102-chr1:149855755..149857816,2	MCF-7	breast:
14	chr1:149855028..149856935-chr19:27731051..27732710,2	MCF-7	breast:
15	chr1:149855502..149862139-chr17:57919672..57925878,9	MCF-7	breast:
16	chr1:149855162..149857708-chr1:149989718..149991505,2	K562	blood:
17	chr1:149853005..149861438-chr1:149978765..149991065,34	MCF-7	breast:
18	chr1:149854015..149856370-chr1:150208548..150210242,2	K562	blood:
19	chr1:145012976..145015960-chr1:149855558..149857553,2	K562	blood:
20	chr1:149855727..149858641-chr12:53341996..53343624,2	MCF-7	breast:
21	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
22	chr1:149854493..149857543-chr1:150205642..150209328,3	MCF-7	breast:
23	chr1:149854540..149863300-chr1:149979575..149985253,19	K562	blood:
24	chr1:149855702..149858196-chr17:57831980..57834656,2	MCF-7	breast:
25	chr1:149855536..149863300-chr1:149977462..149985642,29	K562	blood:
26	chr1:149780176..149786781-chr1:149856138..149862217,21	MCF-7	breast:
27	chr1:149855076..149857631-chr17:58601286..58603694,2	MCF-7	breast:
28	chr1:149856058..149857987-chr17:59937608..59939665,2	MCF-7	breast:
29	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
30	chr1:149855155..149857898-chr3:184077901..184080591,2	MCF-7	breast:
31	chr1:149853918..149856291-chr1:150026219..150029011,2	K562	blood:
32	chr1:149855495..149858087-chr1:167906721..167908261,2	K562	blood:
33	chr1:149855140..149858335-chr17:56706223..56709369,3	MCF-7	breast:
34	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
35	chr1:149855640..149857208-chr4:83290847..83292971,2	K562	blood:
36	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
37	chr1:149855739..149860992-chr1:150036779..150042618,12	K562	blood:
38	chr1:149855855..149861458-chr1:150123805..150130441,8	MCF-7	breast:
39	chr1:149855851..149859969-chr1:150239672..150242215,4	MCF-7	breast:
40	chr1:149844868..149846409-chr1:149855462..149857720,2	K562	blood:
41	chr1:145003130..145005875-chr1:149855420..149857105,2	K562	blood:
42	chr1:149854324..149859746-chr20:45984655..45988969,6	MCF-7	breast:
43	chr1:149855922..149858191-chr7:29646142..29648044,2	MCF-7	breast:
44	chr1:149854077..149861961-chr1:150131511..150145996,30	MCF-7	breast:
45	chr1:149855833..149858002-chr8:145748791..145751323,2	MCF-7	breast:
46	chr1:149782512..149785665-chr1:149854381..149857469,5	MCF-7	breast:
47	chr1:149855909..149858308-chr6:27833822..27835971,2	MCF-7	breast:
48	chr1:149854392..149861957-chr1:150131544..150142194,21	K562	blood:
49	chr1:149856139..149858174-chr1:228592893..228595125,2	MCF-7	breast:
50	chr1:149854454..149857299-chr21:43097372..43099990,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST2H2AC	TF binding region
BOLA1	TF binding region
ENSG00000111057	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000109381	Chromatin interaction
ENSG00000160959	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000265451	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000266187	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000163882	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000227702	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000114859	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000110841	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000231563	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12087748	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837629	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55633017	0.89[AFR][1000 genomes]
rs59956612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61277719	1.00[AMR][1000 genomes]
rs61570934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72708153	0.89[AFR][1000 genomes]
rs7518476	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149853600-149856200	Weak transcription	Pancreas	Pancrea
2	chr1:149854000-149856800	Weak transcription	Esophagus	oesophagus
3	chr1:149855000-149856200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:149855000-149857400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:149855200-149856200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:149855200-149856200	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:149855200-149856200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:149855200-149856200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:149855200-149856200	Enhancers	Left Ventricle	heart
10	chr1:149855200-149856400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:149855200-149856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:149855200-149856400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:149855200-149856400	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:149855200-149856600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:149855200-149857000	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:149855200-149857600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:149855400-149856200	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:149855400-149856400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:149855400-149857000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:149855600-149856200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:149855600-149856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:149855600-149856200	Enhancers	Brain Substantia Nigra	brain
23	chr1:149855600-149856200	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:149855600-149856200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:149855600-149856400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:149855600-149856400	Enhancers	Adipose Nuclei	Adipose
27	chr1:149855600-149856400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr1:149855600-149856600	Flanking Active TSS	HSMMtube	muscle
29	chr1:149855600-149856800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:149855600-149856800	Flanking Active TSS	Fetal Lung	lung
31	chr1:149855600-149857000	Flanking Active TSS	Fetal Thymus	thymus
32	chr1:149855600-149857400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:149855600-149857400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:149855600-149857800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr1:149855600-149860400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:149855600-149860600	Active TSS	Ovary	ovary
37	chr1:149855800-149856200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:149855800-149856200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:149855800-149856200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:149855800-149856200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:149855800-149856200	Active TSS	Right Atrium	heart
42	chr1:149855800-149856200	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:149855800-149856200	Active TSS	Thymus	Thymus
44	chr1:149855800-149856400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr1:149855800-149856400	Flanking Active TSS	A549	lung
46	chr1:149855800-149856400	Enhancers	HepG2	liver
47	chr1:149855800-149856600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:149855800-149856600	Flanking Active TSS	Fetal Heart	heart
49	chr1:149855800-149856600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr1:149855800-149856600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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