Variant report

Variant	rs34186169
Chromosome Location	chr4:69233866-69233867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:68793797..68796085-chr4:69232793..69234726,2	MCF-7	breast:
2	chr4:69225977..69228923-chr4:69232908..69234757,2	MCF-7	breast:
3	chr4:69194867..69197488-chr4:69233410..69236002,2	MCF-7	breast:
4	chr4:69210254..69212514-chr4:69233666..69236534,2	MCF-7	breast:
5	chr4:69211727..69213859-chr4:69233011..69234860,2	MCF-7	breast:
6	chr4:69227116..69229844-chr4:69232808..69235424,3	MCF-7	breast:
7	chr4:69218330..69220312-chr4:69233366..69236029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083896	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10005832	0.86[EUR][1000 genomes]
rs10471153	0.87[EUR][1000 genomes]
rs10866204	0.86[EUR][1000 genomes]
rs11131746	0.87[EUR][1000 genomes]
rs11732554	0.84[EUR][1000 genomes]
rs11735530	0.88[EUR][1000 genomes]
rs13121372	0.87[EUR][1000 genomes]
rs13127027	0.87[EUR][1000 genomes]
rs13148330	0.84[EUR][1000 genomes]
rs1320797	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406695	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1406696	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17089240	0.88[EUR][1000 genomes]
rs17089241	0.88[EUR][1000 genomes]
rs1715086	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1730872	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730875	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1880183	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919905	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1962172	0.87[EUR][1000 genomes]
rs2140519	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319887	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34032921	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34223548	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34265565	0.93[EUR][1000 genomes]
rs34282559	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34474886	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34527218	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34896019	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35051311	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797007	0.86[ASN][1000 genomes]
rs3927373	1.00[ASN][1000 genomes]
rs4860292	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4860927	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4860928	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4860930	0.91[ASN][1000 genomes]
rs4860932	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4860933	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4860934	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4860935	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62316204	0.87[EUR][1000 genomes]
rs6552179	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6822778	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7658151	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7671950	0.86[EUR][1000 genomes]
rs7672364	0.86[EUR][1000 genomes]
rs7696268	0.87[EUR][1000 genomes]
rs9991215	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv437385	chr4:69204755-69383357	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv437386	chr4:69213885-69383357	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1006223	chr4:69217756-69540013	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv870075	chr4:69218674-69608683	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3407776	chr4:69222857-69376755	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3442208	chr4:69222907-69288205	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv879223	chr4:69223057-69592846	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3397664	chr4:69223455-69592846	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv3468149	chr4:69223455-69592846	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv3468150	chr4:69223455-69592846	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69231000-69237200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:69232200-69234400	Enhancers	Osteobl	bone
3	chr4:69232200-69255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:69232600-69234000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr4:69232600-69234200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:69232600-69234400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:69232600-69234800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:69232600-69235800	Enhancers	NH-A	brain
9	chr4:69232800-69234200	Weak transcription	Fetal Kidney	kidney
10	chr4:69233000-69234400	Enhancers	NHEK	skin
11	chr4:69233000-69234800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:69233000-69235200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr4:69233200-69234200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:69233400-69234000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr4:69233400-69234000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:69233400-69234200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr4:69233400-69234400	Enhancers	Placenta	Placenta
18	chr4:69233400-69234800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:69233600-69234400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:69233600-69234800	Enhancers	HMEC	breast
21	chr4:69233600-69235200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr4:69233800-69234000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:69233800-69234000	Enhancers	Pancreas	Pancrea
24	chr4:69233800-69234000	Enhancers	HSMMtube	muscle
25	chr4:69233800-69234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:69233800-69234200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:69233800-69234400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:69233800-69234400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:69233800-69235000	Enhancers	HSMM	muscle
30	chr4:69233800-69235400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:69233800-69235400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:69233800-69235400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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