Variant report

Variant	rs10130894
Chromosome Location	chr14:55764651-55764652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:55764627-55764966	GM12878	blood:	n/a	n/a
2	RAD21	chr14:55764628-55764906	GM12878	blood:	n/a	n/a
3	STAT3	chr14:55764411-55764943	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr14:55764312-55764909	ECC-1	luminal epithelium:	n/a	chr14:55764514-55764530
5	RAD21	chr14:55764521-55764986	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:55764459-55765118	MCF-7	breast:	n/a	n/a
7	BATF	chr14:55764611-55764947	GM12878	blood:	n/a	n/a
8	STAT3	chr14:55764474-55764958	MCF10A-Er-Src	breast:	n/a	n/a
9	RAD21	chr14:55764616-55764894	GM12878	blood:	n/a	n/a
10	CTCF	chr14:55764623-55764976	GM12878	blood:	n/a	n/a
11	MYC	chr14:55764513-55764901	MCF10A-Er-Src	breast:	n/a	n/a
12	RAD21	chr14:55764550-55764934	ECC-1	luminal epithelium:	n/a	n/a
13	RFX5	chr14:55764616-55764815	GM12878	blood:	n/a	n/a
14	RAD21	chr14:55764526-55764982	MCF-7	breast:	n/a	n/a
15	STAT3	chr14:55764482-55764948	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr14:55764523-55764901	MCF10A-Er-Src	breast:	n/a	n/a
17	RUNX3	chr14:55764602-55765036	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:55764555-55764891	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr14:55764506-55765051	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:55764643-55765017	T-47D	breast:	n/a	n/a
21	FOXM1	chr14:55764584-55764989	GM12878	blood:	n/a	n/a
22	SMC3	chr14:55764651-55764925	GM12878	blood:	n/a	n/a
23	NFIC	chr14:55764171-55764986	ECC-1	luminal epithelium:	n/a	chr14:55764514-55764530
24	STAT3	chr14:55764501-55764962	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr14:55764620-55764770	GM12871	blood:	n/a	n/a
26	BCLAF1	chr14:55764561-55765036	GM12878	blood:	n/a	n/a
27	FOS	chr14:55764634-55764891	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr14:55764604-55764886	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:55764558-55764822	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr14:55764644-55764922	A549	lung:	n/a	n/a
31	STAT3	chr14:55764342-55764945	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55764647-55764697	HEK293	kidney:	embryo
2	chr14:55764647-55764697	Jurkat	blood:	n/a
3	chr14:55764647-55764697	HNPCEpiC	eye:	n/a
4	chr14:55764647-55764697	Caco-2	colon:	n/a
5	chr14:55764647-55764697	HMEC	breast:	n/a
6	chr14:55764647-55764697	GM12891	blood:	n/a
7	chr14:55764647-55764697	NHBE	bronchial:	n/a
8	chr14:55764647-55764697	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:55764647-55764697	HRCEpiC	kidney:	n/a
10	chr14:55764647-55764697	AG09309	skin:	n/a
11	chr14:55764647-55764697	U87	brain:	n/a
12	chr14:55764647-55764697	BE2_C	brain:	n/a
13	chr14:55764647-55764697	GM06990	blood:	n/a
14	chr14:55764647-55764697	K562	blood:	n/a
15	chr14:55764647-55764697	SK-N-SH	brain:	n/a
16	chr14:55764647-55764697	BJ	skin:	n/a
17	chr14:55764647-55764697	AG09319	gingival:	n/a
18	chr14:55764647-55764697	HRPEpiC	eye:	n/a
19	chr14:55764647-55764697	HCPEpiC	choroid plexus:	n/a
20	chr14:55764647-55764697	LNCaP	prostate:	n/a
21	chr14:55764647-55764697	AG04450	lung:	fetal
22	chr14:55764647-55764697	NH-A	brain:	n/a
23	chr14:55764647-55764697	SK-N-SH_RA	brain:	n/a
24	chr14:55764647-55764697	SKMC	muscle:	n/a
25	chr14:55764647-55764697	SAEC	small airway:	n/a
26	chr14:55764647-55764697	MCF10A-Er-Src	breast:	n/a
27	chr14:55764647-55764697	IMR90	lung:	fetal
28	chr14:55764647-55764697	HIPEpiC	eye:	n/a
29	chr14:55764647-55764697	GM12878	blood:	n/a
30	chr14:55764647-55764697	Hepatocyte	liver:	n/a
31	chr14:55764647-55764697	NT2-D1	testis:	n/a
32	chr14:55764647-55764697	NHDF-neo	bronchial:	n/a
33	chr14:55764647-55764697	HCM	heart:	n/a
34	chr14:55764647-55764697	HRE	kidney:	n/a
35	chr14:55764647-55764697	GM12892	blood:	n/a
36	chr14:55764647-55764697	PANC-1	pancreas:	n/a
37	chr14:55764647-55764697	H1-hESC	embryonic stem cell:	embryo
38	chr14:55764647-55764697	MCF-7	breast:	n/a
39	chr14:55764647-55764697	T-47D	breast:	n/a
40	chr14:55764647-55764697	A549	lung:	n/a
41	chr14:55764647-55764697	HepG2	liver:	n/a
42	chr14:55764647-55764697	HUVEC	blood vessel:	n/a
43	chr14:55764647-55764697	NB4	blood:	n/a
44	chr14:55764647-55764697	ovcar-3	ovarian:	n/a
45	chr14:55764647-55764697	Hela-S3	cervix:	n/a
46	chr14:55764647-55764697	HEEpiC	esophagus:	n/a
47	chr14:55764647-55764697	AG04449	skin:	fetal
48	chr14:55764647-55764697	AoSMC	blood vessel:	n/a
49	chr14:55764647-55764697	GM19239	blood:	n/a
50	chr14:55764647-55764697	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55737940..55739664-chr14:55764646..55766801,2	MCF-7	breast:
2	chr14:55737517..55738470-chr14:55763647..55765215,7	MCF-7	breast:
3	chr14:55737321..55738465-chr14:55764329..55765201,4	MCF-7	breast:
4	chr14:55764219..55765273-chr14:55820714..55821903,4	MCF-7	breast:
5	chr14:55736930..55738808-chr14:55763982..55767802,4	MCF-7	breast:
6	chr14:55748156..55749852-chr14:55763544..55765374,2	K562	blood:
7	chr14:55747623..55750356-chr14:55762844..55765172,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHMP4BP1	TF binding region
CHMP4BP1	CpG island
ENSG00000239686	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10134937	1.00[EUR][1000 genomes]
rs10135891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10138838	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10144869	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149926	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162552	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10220441	0.86[EUR][1000 genomes]
rs10483640	0.86[EUR][1000 genomes]
rs10498474	1.00[CHB][hapmap]
rs11844441	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11851023	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379398	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379420	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128262	1.00[CHB][hapmap]
rs17128292	1.00[CHB][hapmap]
rs17128323	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17128370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17128438	0.86[EUR][1000 genomes]
rs1886784	1.00[CHB][hapmap]
rs2050669	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2065998	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2274272	1.00[CHB][hapmap]
rs2341536	1.00[EUR][1000 genomes]
rs28379450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661252	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28787988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2880104	0.88[ASN][1000 genomes]
rs28883964	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3759666	1.00[CHB][hapmap]
rs4334208	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56042503	0.87[EUR][1000 genomes]
rs57612384	0.87[EUR][1000 genomes]
rs59155162	0.87[EUR][1000 genomes]
rs60023093	0.86[EUR][1000 genomes]
rs60204830	0.86[EUR][1000 genomes]
rs61662514	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142831	0.86[EUR][1000 genomes]
rs7145502	0.86[EUR][1000 genomes]
rs7147172	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7148663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153958	0.87[EUR][1000 genomes]
rs7155704	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7155729	0.86[EUR][1000 genomes]
rs7155936	1.00[CHB][hapmap]
rs7160642	0.86[EUR][1000 genomes]
rs7160753	0.86[EUR][1000 genomes]
rs7161564	1.00[CHB][hapmap]
rs74050958	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74050963	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74050968	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050975	1.00[EUR][1000 genomes]
rs74053904	1.00[EUR][1000 genomes]
rs8007038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs8009181	1.00[CHB][hapmap]
rs8010853	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8012397	1.00[CHB][hapmap]
rs8016444	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016716	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8021377	1.00[EUR][1000 genomes]
rs9323282	0.86[EUR][1000 genomes]
rs946058	1.00[EUR][1000 genomes]
rs9652341	1.00[EUR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
3	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:55744000-55767800	Weak transcription	K562	blood
6	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
9	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:55745000-55774000	Weak transcription	Liver	Liver
11	chr14:55745200-55778400	Weak transcription	Fetal Thymus	thymus
12	chr14:55745600-55769200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:55745800-55765400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:55745800-55765400	Weak transcription	Fetal Stomach	stomach
15	chr14:55747400-55768400	Weak transcription	NHLF	lung
16	chr14:55748000-55770000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:55749400-55769800	Weak transcription	Primary B cells from cord blood	blood
18	chr14:55751600-55765200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:55752000-55765200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:55752000-55765400	Weak transcription	Fetal Intestine Small	intestine
21	chr14:55752200-55765200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:55752200-55765200	Weak transcription	Lung	lung
23	chr14:55752600-55768200	Weak transcription	HSMM	muscle
24	chr14:55754400-55768400	Weak transcription	NHDF-Ad	bronchial
25	chr14:55754800-55765200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:55754800-55778800	Weak transcription	Hela-S3	cervix
27	chr14:55755000-55770600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:55755000-55774800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:55755200-55768000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:55755800-55768400	Weak transcription	Fetal Brain Female	brain
31	chr14:55756400-55779000	Weak transcription	Gastric	stomach
32	chr14:55757000-55765400	Weak transcription	Right Ventricle	heart
33	chr14:55757000-55767000	Weak transcription	Psoas Muscle	Psoas
34	chr14:55758800-55769600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:55759400-55768600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:55760200-55765200	Weak transcription	Esophagus	oesophagus
37	chr14:55760200-55765400	Weak transcription	HepG2	liver
38	chr14:55760400-55768400	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:55761200-55768400	Weak transcription	Ovary	ovary
40	chr14:55761200-55773200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:55761400-55765400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:55761600-55765200	Weak transcription	Thymus	Thymus
43	chr14:55761600-55765400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:55761600-55768400	Weak transcription	HSMMtube	muscle
45	chr14:55761800-55768600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:55761800-55772400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:55762000-55768000	Weak transcription	Small Intestine	intestine
48	chr14:55762000-55778200	Weak transcription	Placenta	Placenta
49	chr14:55762600-55768600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:55762800-55765600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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