Variant report

Variant	rs60919216
Chromosome Location	chr6:13380384-13380385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13378332..13381749-chr6:13612503..13616973,4	MCF-7	breast:
2	chr6:13379784..13382047-chr6:13573523..13576406,3	MCF-7	breast:
3	chr6:13379880..13381834-chr6:13381972..13383883,2	MCF-7	breast:
4	chr6:13379945..13382317-chr6:13389702..13392053,2	MCF-7	breast:
5	chr6:13376403..13381150-chr6:13486389..13489473,5	MCF-7	breast:
6	chr6:13379061..13381486-chr6:13486091..13489386,3	MCF-7	breast:
7	chr6:13379576..13381860-chr6:13392135..13393921,2	MCF-7	breast:
8	chr6:13379696..13382625-chr6:13383447..13385433,2	MCF-7	breast:
9	chr6:13376520..13380811-chr6:13573724..13576714,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11755431	1.00[AMR][1000 genomes]
rs13340432	0.92[ASN][1000 genomes]
rs2165420	0.92[ASN][1000 genomes]
rs3734880	0.92[ASN][1000 genomes]
rs754439	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13355600-13383400	Weak transcription	A549	lung
2	chr6:13365800-13380600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:13365800-13385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13366000-13380600	Weak transcription	Ovary	ovary
5	chr6:13366000-13382800	Weak transcription	Liver	Liver
6	chr6:13366000-13386800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:13368000-13404600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:13368200-13381000	Weak transcription	NH-A	brain
9	chr6:13368400-13386600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:13372200-13380600	Weak transcription	Lung	lung
11	chr6:13372400-13381000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:13372800-13380600	Weak transcription	Fetal Brain Female	brain
13	chr6:13372800-13380800	Weak transcription	Fetal Brain Male	brain
14	chr6:13374200-13380800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13374400-13380400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:13376000-13383400	Weak transcription	Psoas Muscle	Psoas
17	chr6:13376200-13381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:13376400-13381200	Weak transcription	HMEC	breast
19	chr6:13376800-13386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:13376800-13395200	Weak transcription	NHEK	skin
21	chr6:13377800-13383400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:13377800-13395600	Weak transcription	Aorta	Aorta
23	chr6:13378200-13380400	Enhancers	Left Ventricle	heart
24	chr6:13378200-13382000	Enhancers	Colonic Mucosa	Colon
25	chr6:13378200-13382400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:13378400-13380800	Enhancers	Small Intestine	intestine
27	chr6:13378400-13382400	Enhancers	Stomach Mucosa	stomach
28	chr6:13378600-13380800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:13378600-13382400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:13378600-13383200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:13378600-13383600	Enhancers	GM12878-XiMat	blood
32	chr6:13378800-13381400	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:13379200-13380800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:13379200-13381200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:13379200-13381400	Enhancers	Brain Angular Gyrus	brain
36	chr6:13379200-13381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:13379200-13381800	Enhancers	Brain Substantia Nigra	brain
38	chr6:13379200-13382200	Enhancers	Fetal Heart	heart
39	chr6:13379200-13382800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:13379200-13386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:13379400-13381000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:13379400-13381000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:13379400-13381800	Weak transcription	Primary B cells from cord blood	blood
44	chr6:13379400-13381800	Enhancers	Brain Anterior Caudate	brain
45	chr6:13379400-13381800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:13379400-13382000	Enhancers	Brain Hippocampus Middle	brain
47	chr6:13379400-13382400	Enhancers	Adipose Nuclei	Adipose
48	chr6:13379400-13383600	Weak transcription	Spleen	Spleen
49	chr6:13379600-13380800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:13379600-13380800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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