Variant report

Variant	rs16833376
Chromosome Location	chr1:151512802-151512803
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:332)
CpG islands
(count:0)
Chromatin interactive
region (count:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr1:151512164-151513016	H1-hESC	embryonic stem cell:	n/a	chr1:151512730-151512746 chr1:151512710-151512726 chr1:151512754-151512770 chr1:151512657-151512673 chr1:151512655-151512671
2	POLR2A	chr1:151511956-151513362	MCF-7	breast:	n/a	n/a
3	BRCA1	chr1:151511993-151513323	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:151511782-151514240	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr1:151512504-151513192	A549	lung:	n/a	n/a
6	RCOR1	chr1:151511601-151513498	IMR90	lung:	n/a	n/a
7	RAD21	chr1:151512142-151513100	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:151512190-151513240	IMR90	lung:	n/a	n/a
9	MAX	chr1:151512107-151513074	K562	blood:	n/a	n/a
10	SRF	chr1:151511772-151512981	ECC-1	luminal epithelium:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
11	POLR2A	chr1:151512168-151513029	GM18951	blood:	n/a	n/a
12	POLR2A	chr1:151512458-151513002	HepG2	liver:	n/a	n/a
13	TAF1	chr1:151511839-151513954	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr1:151512669-151513176	PFSK-1	brain:	n/a	n/a
15	SIN3AK20	chr1:151511736-151513947	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:151512720-151512870	HCPEpiC	choroid plexus:	n/a	chr1:151512755-151512765
17	ELF1	chr1:151511856-151513974	MCF-7	breast:	n/a	n/a
18	MBD4	chr1:151512542-151513047	HepG2	liver:	n/a	n/a
19	GATA3	chr1:151511890-151513039	T-47D	breast:	n/a	chr1:151512260-151512267
20	MYC	chr1:151512787-151512967	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:151512194-151513009	GM12878	blood:	n/a	n/a
22	ELF1	chr1:151512628-151513072	K562	blood:	n/a	n/a
23	POLR2A	chr1:151511987-151513185	MCF-7	breast:	n/a	n/a
24	POLR2A	chr1:151512523-151513047	K562	blood:	n/a	n/a
25	MAZ	chr1:151511877-151513485	Hela-S3	cervix:	n/a	chr1:151513413-151513423
26	SIN3AK20	chr1:151512657-151513016	A549	lung:	n/a	n/a
27	YY1	chr1:151512692-151513184	A549	lung:	n/a	n/a
28	IRF1	chr1:151512251-151513017	K562	blood:	n/a	chr1:151512655-151512669 chr1:151512730-151512744
29	RAD21	chr1:151511955-151512901	Hela-S3	cervix:	n/a	n/a
30	ARID3A	chr1:151512409-151512940	HepG2	liver:	n/a	chr1:151512831-151512846
31	HDAC2	chr1:151511855-151513853	MCF-7	breast:	n/a	chr1:151512333-151512341 chr1:151512133-151512141
32	JUND	chr1:151511932-151513066	K562	blood:	n/a	chr1:151512640-151512651
33	POLR2A	chr1:151512608-151513017	GM12878	blood:	n/a	n/a
34	HCFC1	chr1:151512743-151512933	K562	blood:	n/a	n/a
35	POLR2A	chr1:151512417-151513161	HUVEC	blood vessel:	n/a	n/a
36	TAF1	chr1:151512147-151513253	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:151512025-151513218	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:151511966-151513318	PBDE	blood:	n/a	n/a
39	PML	chr1:151511826-151513205	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:151512479-151513656	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr1:151512274-151513033	HEK293	kidney:	n/a	n/a
42	FOXP2	chr1:151512601-151512958	SK-N-MC	brain:	n/a	n/a
43	ZBTB7A	chr1:151512547-151512932	K562	blood:	n/a	chr1:151512712-151512721
44	MXI1	chr1:151511925-151514129	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr1:151512500-151513223	HUVEC	blood vessel:	n/a	n/a
46	CHD1	chr1:151511796-151515943	IMR90	lung:	n/a	n/a
47	SP1	chr1:151512145-151513051	HepG2	liver:	n/a	chr1:151512657-151512669 chr1:151512732-151512744 chr1:151512733-151512743 chr1:151512657-151512669 chr1:151512733-151512742 chr1:151512734-151512743 chr1:151512733-151512742 chr1:151512733-151512743 chr1:151512732-151512744
48	ETS1	chr1:151512566-151513079	A549	lung:	n/a	n/a
49	SIN3AK20	chr1:151512520-151513142	SK-N-SH	brain:	n/a	n/a
50	CHD2	chr1:151512621-151512967	HepG2	liver:	n/a	n/a

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:151512609..151513161-chr19:49121966..49122649,2	Hela-S3	cervix:
2	chr1:151512163..151513137-chr6:30712154..30712827,2	Hela-S3	cervix:
3	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
4	chr1:85039501..85040254-chr1:151512684..151513325,2	Hela-S3	cervix:
5	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
6	chr1:28969492..28970329-chr1:151512730..151513308,2	Hela-S3	cervix:
7	chr1:151512663..151513550-chr3:12525762..12526558,2	Hela-S3	cervix:
8	chr1:151494437..151499363-chr1:151510633..151514422,7	MCF-7	breast:
9	chr1:151512783..151513434-chr9:131037787..131038660,2	Hela-S3	cervix:
10	chr1:151512428..151513209-chr6:30710651..30711197,2	Hela-S3	cervix:
11	chr1:31191630..31192158-chr1:151512114..151512845,2	Hela-S3	cervix:
12	chr1:151512687..151513188-chr15:75315845..75316431,2	Hela-S3	cervix:
13	chr1:151512379..151513148-chr12:13043860..13044815,2	Hela-S3	cervix:
14	chr1:151512695..151514361-chr1:151804056..151806637,3	MCF-7	breast:
15	chr1:151512594..151513161-chr6:26123981..26124756,2	Hela-S3	cervix:
16	chr1:151512152..151513064-chr17:48943159..48943923,3	Hela-S3	cervix:
17	chr1:151511929..151514676-chr5:16935884..16938127,2	MCF-7	breast:
18	chr1:151512640..151513443-chr3:100428519..100429048,2	Hela-S3	cervix:
19	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
20	chr1:151512578..151513216-chrX:47517971..47518782,2	Hela-S3	cervix:
21	chr1:151512227..151513137-chr15:59397018..59397782,2	Hela-S3	cervix:
22	chr1:151512708..151513223-chr20:2081909..2082693,2	Hela-S3	cervix:
23	chr1:151512146..151512974-chr9:132244706..132245666,2	Hela-S3	cervix:
24	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
25	chr1:151512312..151513161-chr4:106068054..106068951,2	Hela-S3	cervix:
26	chr1:151512781..151513515-chr17:42422456..42423040,2	Hela-S3	cervix:
27	chr1:151512680..151513187-chr19:49495973..49496643,2	Hela-S3	cervix:
28	chr1:151512689..151513233-chr3:128997490..128998162,3	Hela-S3	cervix:
29	chr1:151512668..151514795-chr1:151529335..151532212,2	K562	blood:
30	chr1:151511342..151513361-chr1:151529767..151532080,2	MCF-7	breast:
31	chr1:151512225..151513208-chr1:205600494..205601192,2	Hela-S3	cervix:
32	chr1:151379379..151381233-chr1:151511239..151513051,2	MCF-7	breast:
33	chr1:151512395..151512984-chr17:8076255..8077089,2	Hela-S3	cervix:
34	chr1:151511592..151513482-chr9:113016876..113019727,2	MCF-7	breast:
35	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
36	chr1:151512334..151513279-chr10:94608004..94608822,2	Hela-S3	cervix:
37	chr1:151512313..151514089-chr3:39423180..39426141,2	MCF-7	breast:
38	chr1:151499502..151502122-chr1:151511648..151513316,2	MCF-7	breast:
39	chr1:151512166..151513141-chr14:103987052..103987573,2	Hela-S3	cervix:
40	chr1:151512255..151513141-chr6:41888350..41888892,2	Hela-S3	cervix:
41	chr1:151370811..151373589-chr1:151512732..151514796,2	K562	blood:
42	chr1:151372028..151374418-chr1:151511841..151514665,2	MCF-7	breast:
43	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
44	chr1:151512315..151513514-chr15:65596770..65597736,3	Hela-S3	cervix:
45	chr1:151510509..151513919-chr1:151688057..151691918,3	MCF-7	breast:
46	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:
47	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
48	chr1:151512325..151513409-chr14:96967489..96968213,3	Hela-S3	cervix:
49	chr1:151512194..151512839-chr16:56642047..56642602,2	Hela-S3	cervix:
50	chr1:151512673..151514218-chr1:151769581..151771574,2	MCF-7	breast:

No data

Variant related genes	Relation type
TUFT1	TF binding region
ENSG00000232536	TF binding region
ENSG00000159409	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000143942	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000069482	Chromatin interaction
ENSG00000175854	Chromatin interaction
ENSG00000145555	Chromatin interaction
ENSG00000162510	Chromatin interaction
ENSG00000104812	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000269489	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000261334	Chromatin interaction
ENSG00000154743	Chromatin interaction
ENSG00000229388	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000125834	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000167110	Chromatin interaction
ENSG00000182325	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000090060	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000124641	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000196655	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000267064	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000144659	Chromatin interaction
ENSG00000120656	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000185803	Chromatin interaction
ENSG00000158711	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000013588	Chromatin interaction
ENSG00000118181	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000136810	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000126756	Chromatin interaction
ENSG00000183624	Chromatin interaction
ENSG00000114354	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000115239	Chromatin interaction
ENSG00000125148	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11204844	0.83[EUR][1000 genomes]
rs17640579	0.82[EUR][1000 genomes]
rs17640598	0.81[EUR][1000 genomes]
rs35342887	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6686193	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72692715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72692721	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151511800-151513200	Active TSS	Fetal Brain Female	brain
2	chr1:151511800-151513600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:151511800-151513800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:151512000-151513000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:151512000-151513800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:151512000-151514800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:151512200-151513600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:151512200-151513600	Active TSS	Fetal Brain Male	brain
9	chr1:151512200-151513800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:151512200-151513800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr1:151512200-151513800	Active TSS	Fetal Kidney	kidney
12	chr1:151512200-151513800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr1:151512200-151514000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:151512200-151514000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:151512400-151513200	Active TSS	Psoas Muscle	Psoas
16	chr1:151512400-151513600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:151512400-151513600	Active TSS	Ovary	ovary
18	chr1:151512400-151513800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:151512400-151514000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:151512400-151514000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:151512400-151514000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:151512400-151514200	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:151512400-151515600	Active TSS	Esophagus	oesophagus
24	chr1:151512600-151513000	Active TSS	Primary B cells from peripheral blood	blood
25	chr1:151512600-151513000	Active TSS	Primary hematopoietic stem cells	blood
26	chr1:151512600-151513000	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr1:151512600-151513000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:151512600-151513000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:151512600-151513000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:151512600-151513000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:151512600-151513000	Active TSS	Brain Germinal Matrix	brain
32	chr1:151512600-151513000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr1:151512600-151513000	Active TSS	Fetal Thymus	thymus
34	chr1:151512600-151513000	Active TSS	Thymus	Thymus
35	chr1:151512600-151513000	Active TSS	GM12878-XiMat	blood
36	chr1:151512600-151513200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:151512600-151513200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:151512600-151513200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:151512600-151513200	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:151512600-151513200	Active TSS	HUVEC	blood vessel
41	chr1:151512600-151513200	Active TSS	K562	blood
42	chr1:151512600-151513400	Active TSS	Primary T cells from cord blood	blood
43	chr1:151512600-151513400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:151512600-151513400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:151512600-151513400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:151512600-151513400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:151512600-151513400	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:151512600-151513400	Active TSS	Brain Anterior Caudate	brain
49	chr1:151512600-151513400	Active TSS	Brain Hippocampus Middle	brain
50	chr1:151512600-151513400	Active TSS	Brain Inferior Temporal Lobe	brain

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