Variant report

Variant	rs347864
Chromosome Location	chr15:34609330-34609331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34608511..34610241-chr15:34630239..34631894,2	K562	blood:
2	chr15:34603925..34606336-chr15:34608232..34610231,2	K562	blood:
3	chr15:34608749..34610423-chr15:34629941..34632347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2705347	0.83[AMR][1000 genomes]
rs347814	0.83[AMR][1000 genomes]
rs347816	0.83[AMR][1000 genomes]
rs347850	0.83[AMR][1000 genomes]
rs347852	0.83[AMR][1000 genomes]
rs347853	0.91[AMR][1000 genomes]
rs347854	0.91[AMR][1000 genomes]
rs347855	0.83[AMR][1000 genomes]
rs347857	0.83[AMR][1000 genomes]
rs347859	0.83[AMR][1000 genomes]
rs347863	0.91[AMR][1000 genomes]
rs426232	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv469547	chr15:34594557-34757807	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
16	nsv482528	chr15:34594557-34757807	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription 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	33 gene(s)	inside rSNPs	diseases
17	esv1817014	chr15:34598601-34911177	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	esv1817924	chr15:34598601-34911177	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
19	esv1847172	chr15:34598601-34911177	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
20	esv1802396	chr15:34598601-34988247	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	esv1809360	chr15:34598601-34988247	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	esv1844776	chr15:34598601-34988247	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
23	nsv427957	chr15:34598601-34988247	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
4	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
5	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
6	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
7	chr15:34585000-34610600	Weak transcription	Lung	lung
8	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
9	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:34585800-34610400	Weak transcription	Ovary	ovary
11	chr15:34586600-34609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:34587000-34610200	Weak transcription	Fetal Intestine Small	intestine
13	chr15:34589800-34610600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:34590000-34610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:34590000-34610600	Weak transcription	Small Intestine	intestine
16	chr15:34593000-34610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:34594000-34609400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:34594000-34610600	Weak transcription	Gastric	stomach
19	chr15:34596000-34610200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:34596400-34610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:34597400-34610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:34597400-34610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:34597400-34610200	Weak transcription	NHLF	lung
24	chr15:34598600-34610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:34598800-34609600	Weak transcription	Left Ventricle	heart
26	chr15:34598800-34609600	Weak transcription	Right Ventricle	heart
27	chr15:34599200-34610400	Weak transcription	Fetal Thymus	thymus
28	chr15:34600600-34610600	Weak transcription	Psoas Muscle	Psoas
29	chr15:34602400-34610400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:34602400-34610600	Weak transcription	Esophagus	oesophagus
31	chr15:34604400-34610600	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:34605200-34609600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:34605600-34610800	Weak transcription	Brain Substantia Nigra	brain
34	chr15:34605800-34610200	Weak transcription	HUVEC	blood vessel
35	chr15:34607200-34610000	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:34607200-34610200	Weak transcription	Osteobl	bone
37	chr15:34607400-34610400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:34607400-34611600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:34607600-34609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:34607600-34609600	Weak transcription	Primary B cells from cord blood	blood
41	chr15:34607600-34610200	Weak transcription	Thymus	Thymus
42	chr15:34607600-34610400	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:34607600-34610400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:34607600-34610600	Weak transcription	Brain Angular Gyrus	brain
45	chr15:34607800-34610200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr15:34607800-34610400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:34607800-34610400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:34607800-34610400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:34608000-34610000	Weak transcription	Fetal Intestine Large	intestine
50	chr15:34608000-34611000	Active TSS	GM12878-XiMat	blood

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