Variant report

Variant	rs337258
Chromosome Location	chr5:68390747-68390748
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68388349..68391314-chr5:68786934..68789626,2	MCF-7	breast:
2	chr5:68388171..68390847-chr5:68662913..68666552,4	K562	blood:
3	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:
4	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
5	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
6	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
7	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:
8	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
9	chr5:68337727..68340697-chr5:68388577..68391488,3	MCF-7	breast:
10	chr5:68389720..68391335-chr5:68512201..68513725,2	MCF-7	breast:
11	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
12	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
13	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
14	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
15	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145740	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000215006	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000153044	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs164392	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs170893	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs234263	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337250	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs337252	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs337257	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449607	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3413325	chr5:68389021-68391569	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68389200-68390800	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr5:68389400-68390800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:68389400-68390800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:68389400-68390800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:68389400-68390800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:68389400-68390800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr5:68389400-68390800	Active TSS	Fetal Brain Female	brain
8	chr5:68389400-68390800	Active TSS	Fetal Intestine Small	intestine
9	chr5:68389400-68390800	Active TSS	Fetal Kidney	kidney
10	chr5:68389400-68390800	Active TSS	Placenta	Placenta
11	chr5:68389400-68390800	Active TSS	Fetal Stomach	stomach
12	chr5:68389400-68390800	Active TSS	HSMMtube	muscle
13	chr5:68389400-68391000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:68389400-68391000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:68389400-68391000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:68389400-68391000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:68389400-68391000	Active TSS	Fetal Muscle Trunk	muscle
18	chr5:68389400-68391000	Active TSS	Ovary	ovary
19	chr5:68389400-68391000	Active TSS	Psoas Muscle	Psoas
20	chr5:68389400-68391000	Active TSS	Stomach Smooth Muscle	stomach
21	chr5:68389400-68391000	Active TSS	NHDF-Ad	bronchial
22	chr5:68389400-68391200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:68389400-68391200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:68389400-68391200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:68389400-68391200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:68389400-68391200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:68389400-68391200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:68389400-68391200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:68389400-68391200	Active TSS	Fetal Intestine Large	intestine
30	chr5:68389400-68391200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:68389400-68391200	Active TSS	A549	lung
32	chr5:68389400-68391200	Active TSS	HepG2	liver
33	chr5:68389400-68391200	Active TSS	HSMM	muscle
34	chr5:68389400-68391400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:68389400-68391400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:68389400-68391400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:68389400-68391400	Active TSS	Pancreas	Pancrea
38	chr5:68389400-68391600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:68389400-68391600	Active TSS	Colonic Mucosa	Colon
40	chr5:68389600-68390800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr5:68389600-68390800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:68389600-68390800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:68389600-68390800	Active TSS	Dnd41	blood
44	chr5:68389600-68390800	Active TSS	K562	blood
45	chr5:68389600-68390800	Active TSS	NHEK	skin
46	chr5:68389600-68390800	Active TSS	NHLF	lung
47	chr5:68389600-68391000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:68389600-68391200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:68389800-68390800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:68389800-68390800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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