Variant report

Variant	rs34342095
Chromosome Location	chr4:3049663-3049664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3048862..3049664-chr4:3138284..3139005,2	MCF-7	breast:
2	chr4:3049188..3051562-chr4:3075178..3078314,7	MCF-7	breast:
3	chr4:3049147..3049736-chr4:3137760..3138504,2	K562	blood:
4	chr4:3049241..3049778-chr4:3108187..3109172,2	K562	blood:

Variant related genes	Relation type
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10021325	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11929936	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12506200	0.84[ASN][1000 genomes]
rs13141939	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13144633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2471342	0.94[ASN][1000 genomes]
rs34020100	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34053308	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34157939	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34945363	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35342954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35875899	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61407336	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7694687	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription 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 target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1013440	chr4:2993130-3053503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3044400-3050800	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:3044800-3050600	Enhancers	Primary B cells from cord blood	blood
3	chr4:3047400-3055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:3047800-3051200	Weak transcription	Osteobl	bone
5	chr4:3048200-3075200	Weak transcription	Right Atrium	heart
6	chr4:3048400-3049800	Enhancers	GM12878-XiMat	blood
7	chr4:3049000-3050000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr4:3049200-3049800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:3049200-3049800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:3049200-3049800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr4:3049200-3049800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:3049200-3049800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:3049200-3049800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:3049200-3049800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:3049200-3049800	Active TSS	Liver	Liver
16	chr4:3049200-3049800	Active TSS	Colonic Mucosa	Colon
17	chr4:3049200-3049800	Active TSS	Duodenum Mucosa	Duodenum
18	chr4:3049200-3049800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:3049200-3049800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:3049200-3049800	Flanking Active TSS	Placenta	Placenta
21	chr4:3049200-3049800	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr4:3049200-3050000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:3049200-3051000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:3049400-3049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:3049400-3049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:3049400-3049800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:3049400-3049800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:3049400-3049800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr4:3049400-3049800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr4:3049400-3049800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr4:3049400-3049800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:3049400-3049800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr4:3049400-3049800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr4:3049400-3049800	Enhancers	Stomach Mucosa	stomach
35	chr4:3049400-3049800	Active TSS	A549	lung
36	chr4:3049400-3049800	Flanking Active TSS	HepG2	liver
37	chr4:3049400-3049800	Enhancers	HUVEC	blood vessel
38	chr4:3049400-3049800	Enhancers	K562	blood
39	chr4:3049400-3050000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:3049600-3049800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:3049600-3049800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:3049600-3049800	Enhancers	Primary T cells from cord blood	blood
43	chr4:3049600-3049800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:3049600-3049800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr4:3049600-3049800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:3049600-3049800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:3049600-3049800	Enhancers	Adipose Nuclei	Adipose
48	chr4:3049600-3049800	Flanking Active TSS	Esophagus	oesophagus
49	chr4:3049600-3049800	Flanking Active TSS	Pancreas	Pancrea
50	chr4:3049600-3049800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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