Variant report

Variant	rs74056394
Chromosome Location	chr14:65185616-65185617
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	RAD21	chr14:65185482-65185789	H1-hESC	embryonic stem cell:	n/a	chr14:65185643-65185655 chr14:65185645-65185655
2	RAD21	chr14:65185482-65185783	H1-hESC	embryonic stem cell:	n/a	chr14:65185643-65185655 chr14:65185645-65185655
3	RAD21	chr14:65185353-65185873	H1-hESC	embryonic stem cell:	n/a	chr14:65185643-65185655 chr14:65185645-65185655

No.	Distal block	Cell Line	Cell type
1	chr14:65174479..65176413-chr14:65184169..65186446,2	K562	blood:
2	chr14:65182239..65187467-chr14:65224192..65227180,5	MCF-7	breast:
3	chr14:65005659..65008435-chr14:65184165..65188343,3	MCF-7	breast:
4	chr14:64969647..64971800-chr14:65185515..65189340,6	MCF-7	breast:
5	chr14:65183084..65185968-chr14:65190342..65192144,2	MCF-7	breast:
6	chr14:65180689..65184177-chr14:65185537..65188147,4	K562	blood:
7	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
8	chr14:65006473..65008422-chr14:65184349..65186300,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126822	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10138311	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102000	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41456047	1.00[ASN][1000 genomes]
rs4453374	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59115111	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73271697	1.00[ASN][1000 genomes]
rs74056388	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74056389	1.00[ASN][1000 genomes]
rs74056391	1.00[ASN][1000 genomes]
rs74056396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 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	chr14:65176000-65186400	Weak transcription	Osteobl	bone
2	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:65181000-65189400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:65181200-65185800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:65181200-65189600	Enhancers	Liver	Liver
7	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:65181600-65189400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:65181800-65186200	Enhancers	Fetal Muscle Leg	muscle
10	chr14:65181800-65188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:65181800-65190600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
13	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:65182000-65185800	Enhancers	Gastric	stomach
15	chr14:65182000-65190800	Enhancers	Stomach Mucosa	stomach
16	chr14:65182200-65191600	Enhancers	Spleen	Spleen
17	chr14:65182600-65187200	Enhancers	Left Ventricle	heart
18	chr14:65182800-65185800	Enhancers	Fetal Heart	heart
19	chr14:65182800-65186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:65182800-65187600	Enhancers	NH-A	brain
21	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
22	chr14:65183000-65186000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
24	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
25	chr14:65183200-65186800	Enhancers	Placenta	Placenta
26	chr14:65183400-65186600	Enhancers	Small Intestine	intestine
27	chr14:65183400-65187800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:65183400-65188400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:65183400-65190000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:65183600-65186000	Enhancers	Fetal Intestine Large	intestine
32	chr14:65183600-65186800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:65183600-65188000	Enhancers	Aorta	Aorta
34	chr14:65183600-65188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:65183600-65188800	Enhancers	Fetal Lung	lung
36	chr14:65183600-65189600	Enhancers	Ovary	ovary
37	chr14:65183600-65190000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:65183600-65190000	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:65183600-65193800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr14:65183800-65186000	Weak transcription	HepG2	liver
41	chr14:65183800-65186200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:65183800-65187800	Enhancers	Colonic Mucosa	Colon
43	chr14:65183800-65191800	Weak transcription	Brain Germinal Matrix	brain
44	chr14:65183800-65193400	Enhancers	Right Atrium	heart
45	chr14:65183800-65193800	Enhancers	Pancreas	Pancrea
46	chr14:65184000-65186000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
48	chr14:65184200-65186200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:65184200-65188400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr14:65184200-65188400	Enhancers	Pancreatic Islets	Pancreatic Islet

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