Variant report

Variant	rs4869258
Chromosome Location	chr5:95402474-95402475
allele	C/T
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	chr5:95398261..95399913-chr5:95401508..95403607,2	K562	blood:
2	chr5:95192803..95195845-chr5:95402156..95405628,4	K562	blood:
3	chr5:95296442..95299221-chr5:95402366..95405358,3	K562	blood:
4	chr5:95394397..95397979-chr5:95402204..95405493,4	K562	blood:
5	chr5:95362269..95364371-chr5:95402115..95403817,2	K562	blood:
6	chr5:95262626..95265334-chr5:95402014..95404790,2	K562	blood:
7	chr5:95194068..95196070-chr5:95401310..95403656,2	K562	blood:
8	chr5:95401885..95403759-chr5:95409386..95411340,2	K562	blood:
9	chr5:95402259..95403987-chr5:95413723..95416198,2	K562	blood:
10	chr5:95385578..95388383-chr5:95402339..95405273,2	K562	blood:
11	chr5:95401831..95405579-chr5:95411274..95417557,7	K562	blood:
12	chr5:95334613..95336349-chr5:95402257..95404926,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250551	Chromatin interaction
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000207578	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10056771	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10079268	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10085034	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11740207	0.83[EUR][1000 genomes]
rs11949461	0.83[EUR][1000 genomes]
rs11951463	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11956456	0.83[EUR][1000 genomes]
rs11960219	0.83[EUR][1000 genomes]
rs13155375	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13172783	0.84[EUR][1000 genomes]
rs13186419	0.85[EUR][1000 genomes]
rs1389827	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1870270	0.90[EUR][1000 genomes]
rs2067498	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4077350	0.80[EUR][1000 genomes]
rs4128178	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4270717	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4416625	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4479864	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4513721	0.83[EUR][1000 genomes]
rs4869256	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4869259	0.83[EUR][1000 genomes]
rs4869260	0.83[EUR][1000 genomes]
rs4869266	0.81[EUR][1000 genomes]
rs4998057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6556899	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6556900	0.86[EUR][1000 genomes]
rs66683317	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6866723	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6873504	0.83[EUR][1000 genomes]
rs6879658	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6879847	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6884999	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6886983	0.81[EUR][1000 genomes]
rs6889697	0.83[EUR][1000 genomes]
rs6894768	0.83[EUR][1000 genomes]
rs6895121	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6895146	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7341111	0.83[EUR][1000 genomes]
rs7700425	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702346	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7702646	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7710337	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7717351	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7734224	0.83[EUR][1000 genomes]
rs7734985	0.84[EUR][1000 genomes]
rs9314163	0.89[EUR][1000 genomes]
rs9314164	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9314165	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95399000-95403800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:95399600-95403600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:95400400-95402600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:95400400-95402800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:95400400-95403200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:95400600-95403000	Enhancers	A549	lung
7	chr5:95400600-95403200	Enhancers	HSMM	muscle
8	chr5:95400600-95403400	Enhancers	Hela-S3	cervix
9	chr5:95400600-95403600	Enhancers	HUVEC	blood vessel
10	chr5:95400600-95403600	Enhancers	NHDF-Ad	bronchial
11	chr5:95400600-95403600	Enhancers	NHEK	skin
12	chr5:95400600-95404200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95400600-95404400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:95400600-95404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:95400600-95404800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:95400600-95404800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:95400600-95404800	Enhancers	HMEC	breast
18	chr5:95401200-95404400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:95401200-95404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:95401200-95404800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:95401400-95402800	Enhancers	Fetal Intestine Large	intestine
22	chr5:95401400-95402800	Enhancers	Fetal Intestine Small	intestine
23	chr5:95401400-95403200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95401400-95403400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:95401400-95403400	Enhancers	NH-A	brain
26	chr5:95401400-95403400	Enhancers	Osteobl	bone
27	chr5:95401400-95403600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:95401400-95404200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:95401400-95405000	Enhancers	NHLF	lung
30	chr5:95401600-95404200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:95401600-95416400	Weak transcription	Psoas Muscle	Psoas
32	chr5:95401800-95402600	Enhancers	Primary hematopoietic stem cells	blood
33	chr5:95401800-95402600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr5:95401800-95403600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:95402000-95403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:95402000-95403200	Weak transcription	HSMMtube	muscle
37	chr5:95402000-95403600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:95402000-95406800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:95402000-95410600	Weak transcription	Stomach Mucosa	stomach
40	chr5:95402200-95402600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:95402200-95403200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:95402200-95403400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:95402200-95403400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:95402200-95403600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:95402200-95403600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:95402200-95406200	Weak transcription	Colonic Mucosa	Colon
47	chr5:95402200-95406200	Weak transcription	HepG2	liver
48	chr5:95402200-95406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:95402400-95402600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:95402400-95402600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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