Variant report

Variant	rs74060228
Chromosome Location	chr14:70088089-70088090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
2	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
3	chr14:70071959..70073623-chr14:70086065..70088402,2	K562	blood:
4	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
5	chr14:70087739..70089747-chr14:70125920..70128190,2	MCF-7	breast:
6	chr14:70086712..70090061-chr14:70093256..70096092,3	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1275832	1.00[AMR][1000 genomes]
rs17107164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2783512	1.00[AMR][1000 genomes]
rs55954221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56192566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57105079	1.00[AMR][1000 genomes]
rs61636155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060242	0.83[AFR][1000 genomes]
rs74060243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060250	1.00[AMR][1000 genomes]
rs9671513	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv826971	chr14:70086328-70088629	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
3	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
4	chr14:70080600-70088200	Enhancers	Liver	Liver
5	chr14:70080600-70088800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:70080800-70088800	Enhancers	Brain Substantia Nigra	brain
7	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:70081200-70088600	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:70081600-70088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:70082400-70092000	Weak transcription	Gastric	stomach
12	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
14	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
15	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:70083000-70088800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:70083000-70088800	Enhancers	Thymus	Thymus
18	chr14:70083000-70089000	Enhancers	Adipose Nuclei	Adipose
19	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:70083200-70088800	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
25	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:70083400-70088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:70083400-70089000	Enhancers	HMEC	breast
29	chr14:70083400-70089200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:70083400-70089600	Enhancers	K562	blood
31	chr14:70083400-70090000	Weak transcription	HUVEC	blood vessel
32	chr14:70083400-70091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:70083400-70092000	Weak transcription	Fetal Stomach	stomach
34	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
35	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
36	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:70083800-70089000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:70083800-70092000	Weak transcription	Colonic Mucosa	Colon
39	chr14:70083800-70092000	Weak transcription	HSMM	muscle
40	chr14:70084000-70088600	Enhancers	Fetal Thymus	thymus
41	chr14:70084000-70091800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:70084400-70088200	Enhancers	Pancreas	Pancrea
43	chr14:70084400-70088200	Enhancers	Psoas Muscle	Psoas
44	chr14:70084400-70092000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr14:70084400-70092000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:70084800-70089200	Enhancers	Primary hematopoietic stem cells	blood
47	chr14:70084800-70091800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:70084800-70092200	Weak transcription	Fetal Intestine Small	intestine
49	chr14:70085000-70088800	Flanking Active TSS	GM12878-XiMat	blood
50	chr14:70085000-70092000	Weak transcription	NH-A	brain

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