Variant report

Variant	rs3805180
Chromosome Location	chr4:48169412-48169413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48169322..48172122-chr4:48178324..48180864,2	K562	blood:
2	chr4:48168015..48170294-chr4:48173927..48176191,2	K562	blood:
3	chr4:48164755..48167571-chr4:48169298..48171997,3	MCF-7	breast:
4	chr4:48167349..48169980-chr4:48272046..48273556,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11931912	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17655249	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1961973	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4446283	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45598338	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309328	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309331	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309332	0.82[AFR][1000 genomes];0.85[EUR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
3	chr4:48158400-48169600	Weak transcription	K562	blood
4	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
6	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
7	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
8	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
9	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
13	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
15	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
21	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:48159600-48169800	Strong transcription	GM12878-XiMat	blood
23	chr4:48159800-48169600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:48164200-48171200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:48164800-48174400	Weak transcription	HSMM	muscle
27	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
28	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:48165000-48170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:48165000-48171400	Weak transcription	Fetal Heart	heart
31	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:48166200-48170800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:48166400-48172400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr4:48166400-48172600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
36	chr4:48166600-48170000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:48167000-48175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:48167200-48175400	Weak transcription	Placenta	Placenta
39	chr4:48167600-48170600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:48167600-48172600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr4:48167800-48172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:48168000-48169800	Strong transcription	Fetal Intestine Large	intestine
43	chr4:48168000-48170600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:48168400-48170600	Weak transcription	Gastric	stomach
45	chr4:48168800-48170600	Strong transcription	Liver	Liver
46	chr4:48168800-48172800	Strong transcription	Primary B cells from cord blood	blood
47	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
48	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:48169400-48171400	Weak transcription	Rectal Mucosa Donor 31	rectum

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