Variant report

Variant	rs2147972
Chromosome Location	chr14:55598030-55598031
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
2	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
3	chr14:55587248..55591020-chr14:55595215..55599629,4	K562	blood:
4	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
5	chr14:55490753..55494051-chr14:55597379..55599922,4	MCF-7	breast:
6	chr14:55520859..55523802-chr14:55596862..55599089,2	MCF-7	breast:
7	chr14:55596607..55598705-chr14:55613153..55615282,2	MCF-7	breast:
8	chr14:55589520..55592355-chr14:55596993..55599725,2	K562	blood:
9	chr14:55597715..55602179-chr14:55607312..55610754,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180008	Chromatin interaction
ENSG00000131979	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1009977	0.96[EUR][1000 genomes]
rs1009978	0.94[EUR][1000 genomes]
rs10134800	0.86[EUR][1000 genomes]
rs10137409	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140857	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10147667	0.93[EUR][1000 genomes]
rs10149435	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10438127	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1047556	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621351	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622636	0.91[ASN][1000 genomes]
rs11622740	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs15870	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128183	0.87[EUR][1000 genomes]
rs17253695	0.86[ASN][1000 genomes]
rs17672058	0.91[ASN][1000 genomes]
rs17832359	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1815316	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075601	0.91[EUR][1000 genomes]
rs2075602	0.91[EUR][1000 genomes]
rs2075603	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2094102	0.96[EUR][1000 genomes]
rs2094436	0.91[ASN][1000 genomes]
rs2147970	0.91[ASN][1000 genomes]
rs2182207	0.96[ASN][1000 genomes]
rs2296489	0.92[ASN][1000 genomes]
rs2340931	0.94[EUR][1000 genomes]
rs2340936	0.90[ASN][1000 genomes]
rs28429419	0.89[EUR][1000 genomes]
rs3742566	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3759667	0.91[ASN][1000 genomes]
rs3818451	0.82[EUR][1000 genomes]
rs3825613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4040064	0.82[ASN][1000 genomes]
rs4525413	0.85[ASN][1000 genomes]
rs4644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4652	0.88[EUR][1000 genomes]
rs55710823	0.98[ASN][1000 genomes]
rs56660630	0.85[EUR][1000 genomes]
rs57033289	0.93[ASN][1000 genomes]
rs57970196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58269011	0.82[ASN][1000 genomes]
rs61508494	0.96[EUR][1000 genomes]
rs6573005	0.96[EUR][1000 genomes]
rs6573006	0.96[EUR][1000 genomes]
rs6573007	0.91[EUR][1000 genomes]
rs66476033	0.91[ASN][1000 genomes]
rs66531545	0.94[ASN][1000 genomes]
rs66782529	0.98[ASN][1000 genomes]
rs66842809	0.91[ASN][1000 genomes]
rs66871576	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67092614	0.91[ASN][1000 genomes]
rs67098772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67215571	0.91[ASN][1000 genomes]
rs67395212	0.96[ASN][1000 genomes]
rs67588230	0.91[ASN][1000 genomes]
rs67756714	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67805055	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67958555	0.91[ASN][1000 genomes]
rs68083077	0.84[ASN][1000 genomes]
rs7140872	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142704	0.94[EUR][1000 genomes]
rs7147106	0.83[EUR][1000 genomes]
rs7159808	0.91[EUR][1000 genomes]
rs7160110	0.96[EUR][1000 genomes]
rs7160523	0.91[EUR][1000 genomes]
rs72718804	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7493394	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004787	0.91[EUR][1000 genomes]
rs8007614	0.90[EUR][1000 genomes]
rs8007620	0.91[EUR][1000 genomes]
rs8007944	0.88[EUR][1000 genomes]
rs8009670	0.89[EUR][1000 genomes]
rs8011834	0.96[EUR][1000 genomes]
rs8013027	0.98[EUR][1000 genomes]
rs8018110	0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2147972	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55595200-55598400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:55595400-55606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:55595600-55598200	Active TSS	Left Ventricle	heart
4	chr14:55595600-55598200	Active TSS	Ovary	ovary
5	chr14:55595600-55598200	Active TSS	Small Intestine	intestine
6	chr14:55595600-55598400	Active TSS	Right Ventricle	heart
7	chr14:55595600-55598600	Active TSS	Esophagus	oesophagus
8	chr14:55595600-55598600	Active TSS	Psoas Muscle	Psoas
9	chr14:55595600-55599000	Active TSS	Colonic Mucosa	Colon
10	chr14:55596200-55599000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:55596200-55603200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr14:55596400-55599000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr14:55596400-55600000	Weak transcription	K562	blood
14	chr14:55596600-55599200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:55596600-55606400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:55596800-55598200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:55596800-55598800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
18	chr14:55596800-55600000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:55597000-55613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55597200-55598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:55597200-55598200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:55597200-55598200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:55597200-55598200	Active TSS	Colon Smooth Muscle	Colon
24	chr14:55597200-55598200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr14:55597200-55598200	Weak transcription	Spleen	Spleen
26	chr14:55597200-55598400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:55597200-55598600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:55597200-55598600	Active TSS	Stomach Smooth Muscle	stomach
29	chr14:55597200-55598800	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:55597200-55599200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:55597200-55600000	Weak transcription	NH-A	brain
32	chr14:55597200-55602600	Weak transcription	Brain Angular Gyrus	brain
33	chr14:55597200-55602800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:55597200-55602800	Weak transcription	Brain Substantia Nigra	brain
35	chr14:55597200-55603600	Weak transcription	HUVEC	blood vessel
36	chr14:55597200-55604000	Weak transcription	Aorta	Aorta
37	chr14:55597200-55604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:55597200-55604600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:55597200-55604800	Weak transcription	GM12878-XiMat	blood
40	chr14:55597200-55605200	Weak transcription	A549	lung
41	chr14:55597200-55606600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:55597200-55607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:55597400-55598600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:55597400-55598800	Enhancers	HepG2	liver
45	chr14:55597400-55599800	Weak transcription	HSMM	muscle
46	chr14:55597400-55603600	Weak transcription	Fetal Lung	lung
47	chr14:55597600-55598600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:55597600-55598800	Enhancers	Placenta	Placenta
49	chr14:55597600-55598800	Flanking Active TSS	Hela-S3	cervix
50	chr14:55597600-55598800	Genic enhancers	HMEC	breast

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