Variant report

Variant	rs377290
Chromosome Location	chr5:114958993-114958994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114943938..114945936-chr5:114958072..114960009,2	K562	blood:
2	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
3	chr5:114950269..114954273-chr5:114956632..114959836,4	MCF-7	breast:
4	chr5:114947413..114949524-chr5:114957766..114959357,2	K562	blood:
5	chr5:114919821..114922254-chr5:114958227..114960432,2	K562	blood:
6	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:

Variant related genes	Relation type
ENSG00000249249	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000243414	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10055677	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164545	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13186296	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171774	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2303747	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256941	0.99[ASN][1000 genomes]
rs256942	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256944	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256945	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256947	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256948	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256949	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256950	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256951	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256952	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256953	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256954	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256962	0.99[ASN][1000 genomes]
rs256964	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs256967	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256969	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256988	0.95[EUR][1000 genomes]
rs256991	0.95[EUR][1000 genomes]
rs256993	0.95[EUR][1000 genomes]
rs256997	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs256998	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3822579	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs400570	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs413059	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs415577	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs416234	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs424434	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs428191	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4920967	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62371215	0.82[ASN][1000 genomes]
rs698366	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs698367	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs712550	0.99[ASN][1000 genomes]
rs712551	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7702283	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7702869	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7702881	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs790824	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs790825	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9326969	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:114938800-114960000	Weak transcription	Lung	lung
4	chr5:114939000-114959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:114941000-114959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:114946000-114959400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:114946200-114959400	Strong transcription	Fetal Thymus	thymus
9	chr5:114952400-114959200	Weak transcription	Brain Germinal Matrix	brain
10	chr5:114952400-114959400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:114952400-114960200	Weak transcription	Esophagus	oesophagus
12	chr5:114954400-114960200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:114955400-114959400	Weak transcription	Fetal Kidney	kidney
14	chr5:114956200-114959000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:114956400-114959000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:114956400-114959400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:114956400-114960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:114956400-114960200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:114956600-114959000	Weak transcription	Placenta	Placenta
20	chr5:114956600-114959400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:114956600-114959600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr5:114956600-114959800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:114956800-114960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:114957000-114959200	Enhancers	HUVEC	blood vessel
25	chr5:114957000-114959400	Enhancers	Brain Hippocampus Middle	brain
26	chr5:114957200-114959200	Enhancers	Small Intestine	intestine
27	chr5:114957200-114959600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:114957200-114960000	Enhancers	Fetal Brain Male	brain
29	chr5:114957200-114960000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:114957200-114960000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:114957400-114959400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:114957400-114959400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:114957400-114959400	Enhancers	Pancreas	Pancrea
34	chr5:114957400-114959600	Enhancers	Adipose Nuclei	Adipose
35	chr5:114957400-114960200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:114957400-114960400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:114957600-114959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:114957600-114959400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:114957600-114960000	Weak transcription	Gastric	stomach
40	chr5:114957800-114959000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:114957800-114959800	Enhancers	Fetal Intestine Small	intestine
42	chr5:114958000-114959000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:114958000-114959200	Genic enhancers	Fetal Muscle Leg	muscle
44	chr5:114958000-114959200	Enhancers	HSMM	muscle
45	chr5:114958000-114959200	Genic enhancers	NHDF-Ad	bronchial
46	chr5:114958000-114959200	Genic enhancers	Osteobl	bone
47	chr5:114958000-114959400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr5:114958000-114959400	Enhancers	Stomach Smooth Muscle	stomach
49	chr5:114958000-114959400	Genic enhancers	NHEK	skin
50	chr5:114958000-114959800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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