Variant report

Variant	rs73749980
Chromosome Location	chr6:56401445-56401446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56396433..56398982-chr6:56400861..56403143,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17830661	0.92[AFR][1000 genomes]
rs4585566	1.00[AFR][1000 genomes]
rs56273018	0.88[AFR][1000 genomes]
rs56851245	0.96[AFR][1000 genomes]
rs57822928	0.92[AFR][1000 genomes]
rs58633665	1.00[AFR][1000 genomes]
rs59063378	0.92[AFR][1000 genomes]
rs59948116	1.00[AFR][1000 genomes]
rs73455767	0.92[AFR][1000 genomes]
rs73455787	0.83[AFR][1000 genomes]
rs73749957	1.00[AFR][1000 genomes]
rs73749958	1.00[AFR][1000 genomes]
rs73749960	1.00[AFR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
2	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:56376400-56407200	Weak transcription	Gastric	stomach
4	chr6:56377200-56404200	Weak transcription	K562	blood
5	chr6:56383200-56402400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:56384400-56402200	Weak transcription	Small Intestine	intestine
7	chr6:56388000-56402200	Strong transcription	Fetal Intestine Large	intestine
8	chr6:56388200-56401800	Strong transcription	Liver	Liver
9	chr6:56390200-56401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:56390600-56403800	Weak transcription	Thymus	Thymus
11	chr6:56390800-56402400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:56390800-56403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:56391400-56402200	Weak transcription	Lung	lung
14	chr6:56391400-56402400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:56391400-56402800	Strong transcription	Fetal Muscle Leg	muscle
16	chr6:56392200-56401600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:56392400-56401600	Strong transcription	Adipose Nuclei	Adipose
18	chr6:56392400-56406200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:56393000-56402000	Weak transcription	Fetal Heart	heart
20	chr6:56395400-56405200	Weak transcription	Placenta	Placenta
21	chr6:56396800-56401600	Strong transcription	HMEC	breast
22	chr6:56396800-56401800	Genic enhancers	Colon Smooth Muscle	Colon
23	chr6:56397000-56401600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:56397000-56403600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:56397000-56405200	Weak transcription	Brain Germinal Matrix	brain
26	chr6:56397200-56402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:56397200-56406600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:56397400-56405600	Weak transcription	Fetal Brain Female	brain
29	chr6:56398200-56405000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:56398400-56401600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr6:56398600-56402400	Strong transcription	GM12878-XiMat	blood
32	chr6:56398800-56401800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:56399200-56401600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:56399200-56401800	Genic enhancers	Brain Anterior Caudate	brain
35	chr6:56399200-56401800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr6:56399400-56401600	Genic enhancers	Brain Hippocampus Middle	brain
37	chr6:56399400-56401600	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:56399400-56401800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:56399400-56402200	Strong transcription	Fetal Stomach	stomach
40	chr6:56399400-56402600	Enhancers	Brain Angular Gyrus	brain
41	chr6:56399600-56401600	Strong transcription	Left Ventricle	heart
42	chr6:56399600-56401800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:56399600-56403000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:56399800-56403000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:56400000-56401600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:56400000-56401800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:56400000-56401800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr6:56400000-56402600	Genic enhancers	HSMM	muscle
49	chr6:56400000-56404200	Weak transcription	Stomach Mucosa	stomach
50	chr6:56400000-56404600	Weak transcription	Monocytes-CD14+_RO01746	blood

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