Variant report

Variant	rs56166765
Chromosome Location	chr14:55738018-55738019
allele	C/T
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	CHD2	chr14:55737874-55738180	K562	blood:	n/a	n/a
2	CREB1	chr14:55737562-55739249	GM12878	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
3	CHD2	chr14:55737646-55738176	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr14:55737787-55738284	ECC-1	luminal epithelium:	n/a	chr14:55738115-55738124 chr14:55738118-55738127 chr14:55738231-55738245
5	POLR2A	chr14:55737746-55738385	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr14:55737835-55738309	A549	lung:	n/a	n/a
7	CTCF	chr14:55737798-55738190	A549	lung:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
8	CTCF	chr14:55737920-55738070	AG09309	skin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
9	GATA3	chr14:55737728-55738208	T-47D	breast:	n/a	n/a
10	REST	chr14:55737816-55738184	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr14:55737802-55738128	ProgFib	skin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
12	SP1	chr14:55737692-55738272	H1-hESC	embryonic stem cell:	n/a	chr14:55738030-55738039 chr14:55738031-55738040 chr14:55737982-55737995 chr14:55738029-55738041 chr14:55738030-55738040 chr14:55738029-55738041 chr14:55737979-55737990 chr14:55737981-55737990
13	JUND	chr14:55737815-55738295	A549	lung:	n/a	chr14:55738066-55738075
14	MYC	chr14:55737936-55738141	HepG2	liver:	n/a	n/a
15	CTCF	chr14:55737880-55738030	MCF-7	breast:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
16	RFX5	chr14:55737802-55738297	HepG2	liver:	n/a	n/a
17	ZBTB7A	chr14:55737736-55738939	ECC-1	luminal epithelium:	n/a	chr14:55738001-55738010
18	CREB1	chr14:55737617-55738384	H1-hESC	embryonic stem cell:	n/a	chr14:55738064-55738077
19	POLR2A	chr14:55737768-55739018	GM18951	blood:	n/a	n/a
20	ATF2	chr14:55737660-55738235	H1-hESC	embryonic stem cell:	n/a	chr14:55738065-55738076
21	STAT3	chr14:55737902-55738091	MCF10A-Er-Src	breast:	n/a	chr14:55737977-55737989
22	FOS	chr14:55737827-55738102	MCF10A-Er-Src	breast:	n/a	chr14:55738066-55738075
23	CHD2	chr14:55737715-55739000	GM12878	blood:	n/a	chr14:55738328-55738338 chr14:55738641-55738651
24	TEAD4	chr14:55737762-55738119	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF7L2	chr14:55737828-55738121	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:55737853-55738306	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:55737835-55738242	K562	blood:	n/a	n/a
28	CTCF	chr14:55737698-55738227	H1-hESC	embryonic stem cell:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
29	CTCF	chr14:55737880-55738030	NHEK	skin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
30	MAX	chr14:55737733-55738385	SK-N-SH	brain:	n/a	n/a
31	RAD21	chr14:55737720-55738199	GM12878	blood:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
32	MAZ	chr14:55737750-55738307	GM12878	blood:	n/a	n/a
33	EP300	chr14:55737790-55738252	K562	blood:	n/a	chr14:55738002-55738011 chr14:55738116-55738125 chr14:55738119-55738135 chr14:55737967-55737981 chr14:55738177-55738193 chr14:55738157-55738170
34	RAD21	chr14:55737670-55738280	A549	lung:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
35	ARID3A	chr14:55737609-55738095	K562	blood:	n/a	n/a
36	TAF1	chr14:55737992-55738222	GM12878	blood:	n/a	n/a
37	CTCF	chr14:55737798-55738181	Lung_OC	lung:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
38	USF1	chr14:55737738-55738143	A549	lung:	n/a	n/a
39	EP300	chr14:55737683-55738191	GM12878	blood:	n/a	chr14:55738002-55738011 chr14:55738116-55738125 chr14:55738119-55738135 chr14:55737967-55737981 chr14:55738157-55738170
40	EGR1	chr14:55737681-55738110	K562	blood:	n/a	n/a
41	CCNT2	chr14:55737795-55738938	K562	blood:	n/a	chr14:55738031-55738040 chr14:55738330-55738339
42	CTCF	chr14:55737341-55739139	SK-N-SH	brain:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55738332-55738345 chr14:55737996-55738009
43	POLR2A	chr14:55737861-55739000	GM19193	blood:	n/a	n/a
44	CTCF	chr14:55737880-55738030	HFF-Myc	foreskin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
45	MAZ	chr14:55737822-55738288	HepG2	liver:	n/a	n/a
46	FOXA1	chr14:55737754-55738206	T-47D	breast:	n/a	n/a
47	MAX	chr14:55737628-55739204	A549	lung:	n/a	n/a
48	TAF1	chr14:55737650-55738332	H1-hESC	embryonic stem cell:	n/a	n/a
49	USF1	chr14:55737687-55738137	A549	lung:	n/a	n/a
50	CTCF	chr14:55737447-55738293	HCT-116	colon:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009

No.	Distal block	Cell Line	Cell type
1	chr14:55517347..55519818-chr14:55736283..55739378,3	MCF-7	breast:
2	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
3	chr14:55737712..55738366-chr15:56285235..56286222,2	Hela-S3	cervix:
4	chr14:55736450..55738716-chr14:55817481..55820238,2	K562	blood:
5	chr14:55737342..55739119-chr14:56046136..56048438,2	K562	blood:
6	chr14:55516892..55519791-chr14:55737278..55740152,4	K562	blood:
7	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
8	chr14:55705409..55707823-chr14:55736627..55738832,2	K562	blood:
9	chr12:77157369..77158369-chr14:55737768..55738541,2	Hela-S3	cervix:
10	chr14:55706045..55707823-chr14:55736335..55738127,2	K562	blood:
11	chr14:55736930..55738808-chr14:55763982..55767802,4	MCF-7	breast:
12	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
13	chr14:55737940..55739664-chr14:55764646..55766801,2	MCF-7	breast:
14	chr14:55664630..55666911-chr14:55737863..55740088,2	K562	blood:
15	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:
16	chr14:55736296..55738259-chr14:55878149..55880015,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP5-4	chr14:55737863-55738026	ENSG00000258413

Variant related genes	Relation type
FBXO34	TF binding region
ENSG00000186908	Chromatin interaction
ENSG00000126787	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000186615	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000258050	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000239199	Chromatin interaction
ENSG00000069869	Chromatin interaction
ENSG00000271180	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000258469	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10129505	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134317	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139083	0.84[ASN][1000 genomes]
rs10139337	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10139683	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10140063	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140869	0.83[ASN][1000 genomes]
rs10141552	0.87[ASN][1000 genomes]
rs10142803	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143136	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10145203	0.83[ASN][1000 genomes]
rs10146637	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158034	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11547116	0.82[ASN][1000 genomes]
rs11625001	0.86[ASN][1000 genomes]
rs11625423	0.83[ASN][1000 genomes]
rs11628437	0.83[ASN][1000 genomes]
rs11848456	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11848575	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12050099	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17672058	0.81[EUR][1000 genomes]
rs17672364	0.90[EUR][1000 genomes]
rs17740551	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17740741	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1972221	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2026633	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2094436	0.81[EUR][1000 genomes]
rs2147970	0.81[EUR][1000 genomes]
rs2340936	0.80[EUR][1000 genomes]
rs2341622	0.84[ASN][1000 genomes]
rs2880103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35112084	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825614	0.94[EUR][1000 genomes]
rs4040064	0.88[EUR][1000 genomes]
rs4366639	0.82[ASN][1000 genomes]
rs4496026	0.82[ASN][1000 genomes]
rs4580079	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56949365	0.80[ASN][1000 genomes]
rs58260073	0.84[ASN][1000 genomes]
rs58269011	0.88[EUR][1000 genomes]
rs58458194	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59629906	0.83[ASN][1000 genomes]
rs59871474	0.80[ASN][1000 genomes]
rs60248556	0.86[ASN][1000 genomes]
rs6573014	0.84[ASN][1000 genomes]
rs66464079	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66476033	0.81[EUR][1000 genomes]
rs66551709	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66696758	0.85[ASN][1000 genomes]
rs67008693	0.89[EUR][1000 genomes]
rs67092614	0.81[EUR][1000 genomes]
rs67215571	0.81[EUR][1000 genomes]
rs67386901	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67416413	0.89[EUR][1000 genomes]
rs67514154	0.85[ASN][1000 genomes]
rs67588230	0.81[EUR][1000 genomes]
rs67795323	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67822108	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67958555	0.81[EUR][1000 genomes]
rs68046603	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs68138420	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140628	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146752	0.84[ASN][1000 genomes]
rs7147247	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150234	0.81[EUR][1000 genomes]
rs7151581	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7151754	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153612	0.84[ASN][1000 genomes]
rs7153645	0.84[ASN][1000 genomes]
rs7154796	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155954	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7157308	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7158861	0.80[ASN][1000 genomes]
rs7159824	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72715769	0.85[ASN][1000 genomes]
rs73263927	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8005117	0.94[EUR][1000 genomes]
rs8005450	0.81[EUR][1000 genomes]
rs8021583	0.86[ASN][1000 genomes]
rs943590	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347717	chr14:55737449-55739397	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737400-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55737400-55739200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:55737400-55739400	Active TSS	Fetal Lung	lung
4	chr14:55737400-55739800	Active TSS	NHLF	lung
5	chr14:55737400-55741000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:55737600-55738400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:55737600-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:55737600-55738400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:55737600-55739000	Active TSS	Primary B cells from cord blood	blood
10	chr14:55737600-55739000	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:55737600-55739000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr14:55737600-55739200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:55737600-55739200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr14:55737600-55739200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:55737600-55739200	Active TSS	Aorta	Aorta
16	chr14:55737600-55739200	Active TSS	Brain Hippocampus Middle	brain
17	chr14:55737600-55739200	Active TSS	Brain Substantia Nigra	brain
18	chr14:55737600-55739200	Active TSS	Colon Smooth Muscle	Colon
19	chr14:55737600-55739200	Active TSS	Duodenum Mucosa	Duodenum
20	chr14:55737600-55739200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:55737600-55739200	Active TSS	Fetal Muscle Trunk	muscle
22	chr14:55737600-55739200	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:55737600-55739400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:55737600-55739400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr14:55737600-55739600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:55737600-55739600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:55737600-55739600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:55737600-55739600	Active TSS	Esophagus	oesophagus
29	chr14:55737600-55739600	Active TSS	Fetal Thymus	thymus
30	chr14:55737600-55739600	Active TSS	Lung	lung
31	chr14:55737600-55739600	Active TSS	Hela-S3	cervix
32	chr14:55737600-55739800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:55737600-55740000	Active TSS	Colonic Mucosa	Colon
34	chr14:55737600-55740600	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:55737600-55740800	Active TSS	Brain Anterior Caudate	brain
36	chr14:55737600-55741000	Active TSS	Psoas Muscle	Psoas
37	chr14:55737600-55741000	Active TSS	Right Ventricle	heart
38	chr14:55737600-55741200	Active TSS	Brain Angular Gyrus	brain
39	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:55737800-55738400	Weak transcription	Fetal Intestine Large	intestine
41	chr14:55737800-55738600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:55737800-55738600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:55737800-55738600	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr14:55737800-55738600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr14:55737800-55738600	Weak transcription	Fetal Heart	heart
46	chr14:55737800-55738600	Active TSS	HepG2	liver
47	chr14:55737800-55738800	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:55737800-55738800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:55737800-55738800	Active TSS	Adipose Nuclei	Adipose
50	chr14:55737800-55739000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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