Variant report

Variant	rs56946313
Chromosome Location	chr4:148663828-148663829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148655598..148657433-chr4:148661220..148663896,2	MCF-7	breast:
2	chr4:148662885..148664901-chr4:148710340..148713204,2	MCF-7	breast:
3	chr4:140373742..140376231-chr4:148662153..148664287,2	MCF-7	breast:
4	chr4:148655373..148657177-chr4:148661205..148664133,2	K562	blood:
5	chr4:148661332..148664177-chr4:148751893..148754827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172007	Chromatin interaction
ENSG00000273247	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10006193	1.00[ASN][1000 genomes]
rs10011328	1.00[ASN][1000 genomes]
rs11733543	0.86[ASN][1000 genomes]
rs11737828	0.86[ASN][1000 genomes]
rs12508085	0.93[ASN][1000 genomes]
rs13115978	1.00[ASN][1000 genomes]
rs1969102	0.81[EUR][1000 genomes]
rs2174220	0.80[ASN][1000 genomes]
rs4490438	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835093	0.81[AMR][1000 genomes]
rs59160403	0.93[ASN][1000 genomes]
rs59488354	0.93[ASN][1000 genomes]
rs6535556	0.85[EUR][1000 genomes]
rs6828600	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951430	0.86[EUR][1000 genomes]
rs72953456	0.88[EUR][1000 genomes]
rs72953462	0.93[EUR][1000 genomes]
rs7669809	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675072	0.87[ASN][1000 genomes]
rs7680867	0.86[ASN][1000 genomes]
rs7698166	0.86[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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148655800-148665600	Weak transcription	Lung	lung
3	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
5	chr4:148657000-148668600	Weak transcription	Gastric	stomach
6	chr4:148657400-148668600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:148658200-148665400	Weak transcription	Aorta	Aorta
8	chr4:148658200-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:148658800-148665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:148659200-148665200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:148659200-148668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:148660800-148668200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:148661000-148664000	Enhancers	HSMM	muscle
14	chr4:148662600-148664000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:148662600-148664000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:148662600-148664600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:148662600-148664600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:148663000-148675200	Weak transcription	Fetal Lung	lung
19	chr4:148663200-148664000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:148663200-148664000	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:148663200-148665400	Weak transcription	Esophagus	oesophagus
22	chr4:148663200-148665400	Weak transcription	Left Ventricle	heart
23	chr4:148663200-148670800	Weak transcription	A549	lung
24	chr4:148663200-148674400	Weak transcription	NHLF	lung
25	chr4:148663200-148675200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:148663200-148675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:148663200-148675200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:148663400-148664200	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:148663400-148665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:148663400-148665200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:148663400-148665200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:148663400-148665200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:148663400-148665400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:148663400-148665400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:148663400-148665400	Weak transcription	Right Atrium	heart
36	chr4:148663400-148665400	Weak transcription	Right Ventricle	heart
37	chr4:148663400-148665400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:148663400-148665600	Weak transcription	Ovary	ovary
39	chr4:148663400-148665600	Weak transcription	Psoas Muscle	Psoas
40	chr4:148663400-148667800	Weak transcription	GM12878-XiMat	blood
41	chr4:148663400-148668000	Weak transcription	Fetal Heart	heart
42	chr4:148663400-148668200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:148663400-148668200	Weak transcription	HSMMtube	muscle
44	chr4:148663400-148668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:148663400-148668600	Weak transcription	Adipose Nuclei	Adipose
46	chr4:148663400-148668600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:148663400-148668600	Weak transcription	NHEK	skin
48	chr4:148663400-148669000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:148663400-148670800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:148663400-148670800	Weak transcription	NH-A	brain

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