Variant report

Variant	rs61326617
Chromosome Location	chr14:105840921-105840922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr14:105840736-105841117	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:105840742-105841107	HCT-116	colon:	n/a	n/a
3	ELF1	chr14:105840696-105841272	MCF-7	breast:	n/a	n/a
4	MAX	chr14:105840751-105841244	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:105840689-105841173	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:105840746-105841209	K562	blood:	n/a	n/a
7	CTCF	chr14:105840862-105840998	K562	blood:	n/a	n/a
8	ELF1	chr14:105840587-105841301	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:105840873-105840989	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:105840905-105840986	NHEK	skin:	n/a	n/a
11	CTCF	chr14:105840840-105840990	HMEC	breast:	n/a	n/a
12	E2F6	chr14:105840807-105841006	K562	blood:	n/a	n/a
13	CTCF	chr14:105840900-105841050	NHEK	skin:	n/a	n/a
14	CTCF	chr14:105840832-105841030	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:105840880-105841030	SAEC	small airway:	n/a	n/a
16	CTCF	chr14:105840880-105841030	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:105840869-105841016	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:105840920-105841070	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr14:105840820-105840970	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr14:105840847-105841005	LNCaP	prostate:	n/a	n/a
21	CTCF	chr14:105840840-105840990	NHEK	skin:	n/a	n/a
22	CTCF	chr14:105840817-105841023	MCF-7	breast:	n/a	n/a
23	ELF1	chr14:105840774-105841034	K562	blood:	n/a	n/a
24	CTCF	chr14:105840832-105840974	K562	blood:	n/a	n/a
25	CTCF	chr14:105840860-105841010	HMEC	breast:	n/a	n/a
26	CTCF	chr14:105840830-105841043	MCF-7	breast:	n/a	n/a
27	EGR1	chr14:105840763-105840980	K562	blood:	n/a	chr14:105840883-105840894 chr14:105840882-105840895
28	MAX	chr14:105840701-105841428	MCF-7	breast:	n/a	n/a
29	UBTF	chr14:105840875-105840969	K562	blood:	n/a	n/a
30	CTCF	chr14:105840872-105840986	HepG2	liver:	n/a	n/a
31	CTCF	chr14:105840920-105841070	HCT-116	colon:	n/a	n/a
32	CTCF	chr14:105840800-105840950	K562	blood:	n/a	n/a
33	MAX	chr14:105840791-105841126	K562	blood:	n/a	n/a
34	CTCF	chr14:105840860-105840943	LNCaP	prostate:	n/a	n/a
35	ELF1	chr14:105840780-105841016	K562	blood:	n/a	n/a
36	ZNF143	chr14:105840920-105841034	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105839498..105842285-chr14:105930985..105932739,2	MCF-7	breast:
2	chr14:105839124..105843630-chr14:105955152..105959090,9	MCF-7	breast:
3	chr14:105839406..105843538-chr14:105863279..105866861,6	MCF-7	breast:
4	chr14:105839329..105841104-chr14:105940016..105942483,2	MCF-7	breast:
5	chr14:105834074..105836312-chr14:105838638..105841381,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS20P33	TF binding region
ENSG00000226174	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10132193	1.00[AMR][1000 genomes]
rs10133343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136894	1.00[AMR][1000 genomes]
rs10137499	1.00[AMR][1000 genomes]
rs10142763	1.00[AMR][1000 genomes]
rs10150076	1.00[AMR][1000 genomes]
rs10151345	1.00[AMR][1000 genomes]
rs10152000	1.00[AMR][1000 genomes]
rs11846567	1.00[ASN][1000 genomes]
rs11847128	1.00[ASN][1000 genomes]
rs11847920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850681	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28419155	1.00[AMR][1000 genomes]
rs28444495	1.00[ASN][1000 genomes]
rs28450331	1.00[ASN][1000 genomes]
rs28451686	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28461287	1.00[ASN][1000 genomes]
rs28482150	1.00[AMR][1000 genomes]
rs28488281	1.00[ASN][1000 genomes]
rs28507499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28529001	1.00[ASN][1000 genomes]
rs28537945	1.00[AMR][1000 genomes]
rs28539444	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545230	1.00[AMR][1000 genomes]
rs28547922	1.00[AMR][1000 genomes]
rs28548340	1.00[ASN][1000 genomes]
rs28588179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28665678	1.00[AMR][1000 genomes]
rs28678078	1.00[AMR][1000 genomes]
rs28678492	1.00[AMR][1000 genomes]
rs28710336	1.00[AMR][1000 genomes]
rs28733380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4073351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4073352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4074004	1.00[ASN][1000 genomes]
rs4076933	1.00[ASN][1000 genomes]
rs56734561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57091581	1.00[ASN][1000 genomes]
rs57244820	1.00[ASN][1000 genomes]
rs58214606	1.00[ASN][1000 genomes]
rs60505080	1.00[ASN][1000 genomes]
rs7158718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361045	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361060	1.00[ASN][1000 genomes]
rs8008801	1.00[ASN][1000 genomes]
rs8009536	1.00[AMR][1000 genomes]
rs8009750	1.00[AMR][1000 genomes]
rs9743768	1.00[AMR][1000 genomes]
rs9989145	1.00[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
3	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
4	chr14:105818600-105846000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:105818800-105849200	Weak transcription	A549	lung
6	chr14:105821800-105842600	Weak transcription	Fetal Brain Male	brain
7	chr14:105822000-105848800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:105822800-105847800	Weak transcription	Liver	Liver
9	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:105823800-105846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:105823800-105849600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:105825600-105848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:105827800-105847600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:105831000-105863800	Weak transcription	Fetal Kidney	kidney
15	chr14:105831400-105844400	Weak transcription	Stomach Mucosa	stomach
16	chr14:105831400-105848800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:105831400-105864000	Weak transcription	Osteobl	bone
18	chr14:105831600-105842000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:105831600-105842400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:105831600-105850600	Weak transcription	Fetal Heart	heart
21	chr14:105831600-105855200	Strong transcription	Fetal Stomach	stomach
22	chr14:105831600-105863200	Weak transcription	NHDF-Ad	bronchial
23	chr14:105832000-105841600	Strong transcription	Fetal Intestine Small	intestine
24	chr14:105832000-105842000	Weak transcription	Fetal Thymus	thymus
25	chr14:105832200-105849600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:105833000-105841600	Strong transcription	Brain Germinal Matrix	brain
27	chr14:105834000-105842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:105834600-105848400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:105834800-105841800	Weak transcription	Primary T cells from cord blood	blood
30	chr14:105834800-105846200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:105835200-105848600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:105835200-105848600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:105835200-105849200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:105835200-105849400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:105835400-105842000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:105835400-105846000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:105835400-105848800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:105835600-105841800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:105835600-105845400	Weak transcription	Brain Substantia Nigra	brain
40	chr14:105836000-105850000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:105836400-105841800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:105836400-105842000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:105836400-105844000	Weak transcription	Gastric	stomach
44	chr14:105836400-105845000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:105836400-105845200	Weak transcription	Right Ventricle	heart
46	chr14:105836400-105846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:105836400-105846000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:105836400-105846000	Weak transcription	Thymus	Thymus
49	chr14:105836400-105846200	Weak transcription	Colonic Mucosa	Colon
50	chr14:105836400-105846200	Weak transcription	Pancreas	Pancrea

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