Variant report

Variant	rs7144624
Chromosome Location	chr14:67984109-67984110
allele	G/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	CTCF	chr14:67983960-67984110	HPAF	blood vessel:	n/a	n/a
2	RAD21	chr14:67983866-67984111	HepG2	liver:	n/a	chr14:67983924-67983936
3	CTCF	chr14:67983960-67984110	SK-N-SH_RA	brain:	n/a	n/a
4	RAD21	chr14:67983872-67984179	MCF-7	breast:	n/a	chr14:67983924-67983936
5	RAD21	chr14:67983747-67984196	MCF-7	breast:	n/a	chr14:67983924-67983936
6	RAD21	chr14:67983732-67984196	H1-hESC	embryonic stem cell:	n/a	chr14:67983924-67983936
7	RAD21	chr14:67983808-67984117	HepG2	liver:	n/a	chr14:67983924-67983936
8	CTCF	chr14:67983980-67984130	SAEC	small airway:	n/a	n/a
9	RAD21	chr14:67983718-67984215	HCT-116	colon:	n/a	chr14:67983924-67983936
10	CTCF	chr14:67983960-67984110	HRE	kidney:	n/a	n/a
11	RAD21	chr14:67983807-67984221	A549	lung:	n/a	chr14:67983924-67983936
12	CTCF	chr14:67983869-67984128	NHEK	skin:	n/a	n/a
13	RAD21	chr14:67983751-67984196	HCT-116	colon:	n/a	chr14:67983924-67983936
14	CTCF	chr14:67983940-67984170	HA-sp	spinal cord:	n/a	n/a
15	RAD21	chr14:67983771-67984206	ECC-1	luminal epithelium:	n/a	chr14:67983924-67983936
16	CTCF	chr14:67984020-67984170	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr14:67983917-67984126	K562	blood:	n/a	n/a
18	RAD21	chr14:67983785-67984220	HepG2	liver:	n/a	chr14:67983924-67983936
19	CTCF	chr14:67983866-67984148	A549	lung:	n/a	n/a
20	CTCF	chr14:67983836-67984218	K562	blood:	n/a	n/a
21	CTCF	chr14:67983960-67984110	HCT-116	colon:	n/a	n/a
22	CTCF	chr14:67983960-67984110	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr14:67983885-67984156	IMR90	lung:	n/a	n/a
24	RAD21	chr14:67983831-67984196	H1-hESC	embryonic stem cell:	n/a	chr14:67983924-67983936
25	CTCF	chr14:67983872-67984123	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr14:67983960-67984110	AG09309	skin:	n/a	n/a
27	CTCF	chr14:67983806-67984148	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr14:67983913-67984147	SK-N-SH_RA	brain:	n/a	chr14:67983924-67983936
29	CTCF	chr14:67983960-67984110	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr14:67984020-67984170	HCM	heart:	n/a	n/a
31	RAD21	chr14:67983788-67984176	SK-N-SH_RA	brain:	n/a	chr14:67983924-67983936
32	RAD21	chr14:67983843-67984167	H1-hESC	embryonic stem cell:	n/a	chr14:67983924-67983936
33	CTCF	chr14:67983960-67984110	HCPEpiC	choroid plexus:	n/a	n/a
34	ZNF143	chr14:67983885-67984121	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr14:67983862-67984187	IMR90	lung:	n/a	chr14:67983924-67983936

No.	Distal block	Cell Line	Cell type
1	chr14:67958532..67960462-chr14:67983895..67986078,2	MCF-7	breast:
2	chr14:67982264..67984804-chr14:68036407..68038355,2	MCF-7	breast:
3	chr14:67983855..67986237-chr14:67998798..68001170,2	K562	blood:
4	chr14:67983896..67986745-chr14:68000053..68001873,3	MCF-7	breast:
5	chr14:67953824..67955734-chr14:67983233..67985363,2	MCF-7	breast:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10133618	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134444	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10143518	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873204	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11158675	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158676	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11158677	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158678	0.84[ASN][1000 genomes]
rs11621977	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878949	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878981	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879556	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12887115	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555397	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555399	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980614	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273596	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899206	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902477	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140327	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144333	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154258	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155830	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155911	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7156144	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7160654	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160944	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161368	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011307	0.83[ASN][1000 genomes]
rs8019176	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019974	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv996460	chr14:67984105-67984741	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv16157	chr14:67984105-67985120	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67982600-67999000	Weak transcription	Right Atrium	heart
2	chr14:67982800-67984200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:67982800-67984600	Enhancers	Primary B cells from cord blood	blood
4	chr14:67983000-67984200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:67983000-67985400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:67983000-67986200	Enhancers	Fetal Thymus	thymus
7	chr14:67983000-67987400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:67983400-67984200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:67983600-67984400	Enhancers	Brain Substantia Nigra	brain
10	chr14:67983800-67984200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:67983800-67984200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:67983800-67984200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr14:67983800-67985800	Enhancers	Thymus	Thymus
14	chr14:67984000-67984400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:67984000-67988600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:67984000-67988800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:67984000-67988800	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:67984000-67989000	Weak transcription	Brain Angular Gyrus	brain
19	chr14:67984000-67989000	Weak transcription	Brain Anterior Caudate	brain

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