Variant report

Variant	rs180952
Chromosome Location	chr4:148853879-148853880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148851806..148854793-chr4:148858894..148861508,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs168367	1.00[ASN][1000 genomes]
rs182989	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187005	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118032	1.00[ASN][1000 genomes]
rs2118033	0.80[EUR][1000 genomes]
rs2164529	1.00[ASN][1000 genomes]
rs238866	1.00[ASN][1000 genomes]
rs2635269	0.88[EUR][1000 genomes]
rs349025	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4594709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820696	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857490	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797400-148879600	Weak transcription	Gastric	stomach
5	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
6	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
7	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148824600-148854400	Weak transcription	Right Ventricle	heart
9	chr4:148825400-148861200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
11	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
12	chr4:148827400-148861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:148829400-148864200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:148832200-148854400	Weak transcription	NHEK	skin
15	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
16	chr4:148834800-148861400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:148835000-148867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:148835000-148869000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:148835600-148854400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:148836400-148861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:148836600-148867000	Weak transcription	HMEC	breast
22	chr4:148837800-148854400	Weak transcription	Left Ventricle	heart
23	chr4:148838400-148858400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:148838800-148854400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:148843400-148854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:148843400-148854400	Weak transcription	HSMMtube	muscle
27	chr4:148847000-148854800	Weak transcription	Fetal Kidney	kidney
28	chr4:148847400-148877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:148849000-148854400	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:148849000-148854400	Weak transcription	Lung	lung
31	chr4:148849000-148861200	Weak transcription	Aorta	Aorta
32	chr4:148849200-148854400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:148849200-148854400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:148849200-148854600	Weak transcription	Ovary	ovary
35	chr4:148849200-148875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:148849400-148854200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:148849600-148854400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:148849600-148854400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:148849600-148854800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:148849600-148863800	Weak transcription	NHLF	lung
41	chr4:148849800-148863800	Weak transcription	GM12878-XiMat	blood
42	chr4:148849800-148863800	Weak transcription	Osteobl	bone
43	chr4:148850000-148854600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:148850000-148863600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:148850000-148863800	Weak transcription	NHDF-Ad	bronchial
46	chr4:148850000-148876400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:148850200-148854400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:148850200-148854400	Weak transcription	Fetal Stomach	stomach
49	chr4:148850200-148854400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel

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