Variant report

Variant	rs73334479
Chromosome Location	chr7:5645545-5645546
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5645477..5648196-chr7:5732391..5735372,2	K562	blood:
2	chr7:5644809..5647806-chr7:5648776..5650378,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56984603	1.00[AMR][1000 genomes]
rs57926060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58090944	1.00[AMR][1000 genomes]
rs58158005	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58464539	1.00[AMR][1000 genomes]
rs60300172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972718	1.00[AMR][1000 genomes]
rs73334470	1.00[AMR][1000 genomes]
rs73336207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336234	1.00[AMR][1000 genomes]
rs73336241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73673169	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS 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	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
22	nsv819922	chr7:5642878-5647466	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
2	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:5638400-5648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
8	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:5639200-5647600	Weak transcription	Stomach Mucosa	stomach
11	chr7:5639600-5648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:5641000-5646000	Weak transcription	Fetal Brain Male	brain
13	chr7:5641200-5646400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:5641200-5648400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:5641400-5646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:5641400-5646600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr7:5641600-5645600	Strong transcription	Osteobl	bone
18	chr7:5641600-5659000	Weak transcription	Thymus	Thymus
19	chr7:5641800-5648400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:5641800-5648600	Strong transcription	Fetal Intestine Small	intestine
21	chr7:5641800-5648600	Strong transcription	NHLF	lung
22	chr7:5642000-5646000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:5642000-5646600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:5642000-5647000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:5642000-5648400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:5642000-5648400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr7:5642000-5648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:5642000-5650600	Genic enhancers	Fetal Muscle Leg	muscle
29	chr7:5642200-5648400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:5642200-5648400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:5642200-5653400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:5642400-5647000	Strong transcription	Fetal Brain Female	brain
33	chr7:5642400-5647200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:5642600-5645600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:5642600-5645800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr7:5642600-5645800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:5642600-5646000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:5642600-5646400	Strong transcription	Placenta	Placenta
39	chr7:5642600-5646800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:5642600-5646800	Strong transcription	Brain Germinal Matrix	brain
41	chr7:5642600-5647200	Strong transcription	Lung	lung
42	chr7:5642600-5647400	Strong transcription	Ovary	ovary
43	chr7:5642800-5645600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:5642800-5645600	Strong transcription	Brain Anterior Caudate	brain
45	chr7:5642800-5646600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr7:5642800-5647400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:5642800-5647400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:5642800-5664800	Weak transcription	Hela-S3	cervix
49	chr7:5643200-5647400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:5643400-5646600	Weak transcription	HSMM	muscle

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