Variant report

Variant	rs73751323
Chromosome Location	chr5:14269247-14269248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14155881..14158811-chr5:14267142..14271683,5	MCF-7	breast:
2	chr5:14268388..14270560-chr5:14279679..14282134,3	MCF-7	breast:
3	chr5:14036740..14039261-chr5:14266762..14269658,3	MCF-7	breast:
4	chr5:13986931..13990201-chr5:14268952..14272276,3	MCF-7	breast:
5	chr5:14267248..14270111-chr5:14276512..14278649,2	K562	blood:
6	chr5:14268455..14270737-chr5:14277018..14279367,2	MCF-7	breast:
7	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
8	chr5:14262017..14264062-chr5:14267525..14269616,2	K562	blood:
9	chr5:14141187..14146160-chr5:14268118..14270576,7	MCF-7	breast:
10	chr5:14170726..14172536-chr5:14269048..14270770,2	MCF-7	breast:
11	chr5:14034068..14036123-chr5:14267082..14269872,2	MCF-7	breast:
12	chr5:14036353..14038493-chr5:14267240..14270155,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10062034	1.00[AMR][1000 genomes]
rs10076925	1.00[AMR][1000 genomes]
rs16903350	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903399	1.00[AMR][1000 genomes]
rs16903467	1.00[AMR][1000 genomes]
rs55750919	1.00[AMR][1000 genomes]
rs55754427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55773296	1.00[AMR][1000 genomes]
rs56114434	1.00[AMR][1000 genomes]
rs56141029	1.00[AMR][1000 genomes]
rs56227025	1.00[AMR][1000 genomes]
rs56664186	1.00[AMR][1000 genomes]
rs56712870	1.00[AMR][1000 genomes]
rs57560019	1.00[AMR][1000 genomes]
rs57974400	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324829	1.00[AMR][1000 genomes]
rs58443103	1.00[AMR][1000 genomes]
rs58716074	0.83[AMR][1000 genomes]
rs58897996	1.00[AMR][1000 genomes]
rs59499572	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59853866	1.00[AMR][1000 genomes]
rs60077210	1.00[AMR][1000 genomes]
rs60568524	0.83[AMR][1000 genomes]
rs61180647	0.83[AMR][1000 genomes]
rs61396062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61509800	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6868596	0.83[AMR][1000 genomes]
rs73748806	1.00[AMR][1000 genomes]
rs73748810	0.83[AMR][1000 genomes]
rs73748811	1.00[AMR][1000 genomes]
rs73749082	1.00[AMR][1000 genomes]
rs73749083	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749085	1.00[AMR][1000 genomes]
rs73749234	1.00[AMR][1000 genomes]
rs73749235	1.00[AMR][1000 genomes]
rs73751307	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751311	0.83[AMR][1000 genomes]
rs73751318	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751324	0.81[AFR][1000 genomes]
rs73751327	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751329	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751335	0.83[AMR][1000 genomes]
rs73751336	0.83[AMR][1000 genomes]
rs73751337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751338	0.83[AMR][1000 genomes]
rs73751339	0.83[AMR][1000 genomes]
rs73751340	0.83[AMR][1000 genomes]
rs7703674	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7705426	0.83[AMR][1000 genomes]
rs7713114	0.83[AMR][1000 genomes]
rs7716460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723309	1.00[AMR][1000 genomes]
rs7724084	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	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14262200-14270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:14265200-14271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:14265400-14269400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:14265400-14269400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:14265400-14269400	Weak transcription	Fetal Lung	lung
7	chr5:14265400-14269600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:14265400-14270400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:14265400-14270600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:14265400-14270800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:14265400-14270800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:14265400-14270800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:14265400-14270800	Enhancers	Fetal Brain Male	brain
14	chr5:14265400-14271000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:14265400-14271200	Enhancers	NHLF	lung
16	chr5:14265400-14272200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:14265400-14277200	Weak transcription	Thymus	Thymus
18	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
19	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:14265600-14270000	Weak transcription	Primary B cells from cord blood	blood
21	chr5:14265600-14270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:14266000-14270000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:14266000-14270400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:14266000-14270800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:14266400-14269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:14266400-14270600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:14266800-14270000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:14267000-14270400	Enhancers	Fetal Thymus	thymus
29	chr5:14267000-14271000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:14267000-14272600	Enhancers	HepG2	liver
31	chr5:14267400-14270400	Enhancers	Ovary	ovary
32	chr5:14267400-14270400	Flanking Active TSS	A549	lung
33	chr5:14267400-14270800	Enhancers	Fetal Muscle Leg	muscle
34	chr5:14267600-14269400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr5:14267600-14269600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:14267600-14269800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:14267800-14269400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr5:14268000-14269600	Flanking Active TSS	NH-A	brain
39	chr5:14268000-14270400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:14268000-14270400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:14268000-14270400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr5:14268000-14271000	Enhancers	Colon Smooth Muscle	Colon
43	chr5:14268200-14269600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:14268200-14269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:14268200-14270200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:14268200-14270400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:14268200-14270400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:14268200-14270400	Enhancers	Aorta	Aorta
49	chr5:14268200-14270400	Enhancers	Brain Germinal Matrix	brain
50	chr5:14268200-14270400	Enhancers	Brain Inferior Temporal Lobe	brain

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