Variant report

Variant	rs4240385
Chromosome Location	chr5:124317377-124317378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124314982..124317852-chr5:124324896..124327856,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-43D2.2.1-10	chr5:124315897-124317909	XLOC_004536

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10044837	0.92[ASN][1000 genomes]
rs10055285	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10057766	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10060023	0.90[ASN][1000 genomes]
rs10079602	0.90[ASN][1000 genomes]
rs11241779	0.81[ASN][1000 genomes]
rs11951671	0.81[ASN][1000 genomes]
rs11958289	0.81[ASN][1000 genomes]
rs12109265	0.89[ASN][1000 genomes]
rs13158867	0.80[ASN][1000 genomes]
rs1374130	0.89[ASN][1000 genomes]
rs17152193	0.88[ASN][1000 genomes]
rs35862376	0.81[ASN][1000 genomes]
rs4240384	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4311414	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4331894	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4357030	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540171	0.89[ASN][1000 genomes]
rs6861021	0.90[ASN][1000 genomes]
rs6861089	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6863192	0.89[ASN][1000 genomes]
rs6872411	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6875187	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6875763	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6876036	0.89[ASN][1000 genomes]
rs7732618	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9968605	0.81[EUR][1000 genomes];0.90[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124314400-124317400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:124314400-124317400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:124314400-124317600	Enhancers	Fetal Brain Male	brain
4	chr5:124314400-124317600	Enhancers	Fetal Lung	lung
5	chr5:124314400-124318400	Enhancers	Stomach Mucosa	stomach
6	chr5:124314400-124318600	Enhancers	Fetal Intestine Small	intestine
7	chr5:124314600-124318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:124314600-124318400	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:124314600-124318400	Enhancers	Fetal Intestine Large	intestine
10	chr5:124314800-124317400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:124314800-124317400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:124314800-124318000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:124314800-124318400	Enhancers	Dnd41	blood
14	chr5:124315000-124318400	Enhancers	Primary B cells from cord blood	blood
15	chr5:124315000-124319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:124315200-124317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:124315200-124317400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:124315200-124317800	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:124315600-124317400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:124316000-124318000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:124316200-124318400	Enhancers	HMEC	breast
22	chr5:124316400-124318400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:124316400-124318400	Enhancers	NHEK	skin
24	chr5:124316600-124317400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:124316600-124317400	Weak transcription	Fetal Brain Female	brain
26	chr5:124316800-124317400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:124316800-124317400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:124316800-124318000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:124316800-124318000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:124316800-124318000	Enhancers	Brain Germinal Matrix	brain
31	chr5:124316800-124318200	Enhancers	GM12878-XiMat	blood
32	chr5:124317000-124317400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:124317000-124318200	Enhancers	Pancreas	Pancrea
34	chr5:124317200-124317600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:124317200-124317600	Weak transcription	Fetal Kidney	kidney
36	chr5:124317200-124318000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:124317200-124318000	Enhancers	Small Intestine	intestine
38	chr5:124317200-124318200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:124317200-124318200	Enhancers	Gastric	stomach
40	chr5:124317200-124318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:124317200-124318400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:124317200-124318600	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:124317200-124319200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:124317200-124319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:124317200-124320000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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