Variant report

Variant	rs533789645
Chromosome Location	chr7:104950595-104950596
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104944468..104948806-chr7:104949907..104951559,3	K562	blood:
2	chr7:104935027..104937759-chr7:104947845..104950749,2	K562	blood:
3	chr7:104945506..104947169-chr7:104948934..104951564,2	MCF-7	breast:
4	chr7:104943318..104946165-chr7:104949324..104952244,3	K562	blood:
5	chr7:104948405..104951039-chr7:105028553..105030252,2	MCF-7	breast:
6	chr7:104907817..104909444-chr7:104949572..104952100,2	MCF-7	breast:
7	chr7:104651787..104654517-chr7:104949816..104951712,2	MCF-7	breast:
8	chr7:104944150..104946367-chr7:104948630..104950865,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000242154	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	esv2753646	chr7:104905588-104972800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:104939200-104954400	Weak transcription	Stomach Mucosa	stomach
3	chr7:104939600-104966200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:104942000-104953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104944400-104950800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:104944600-104950600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:104945400-104950600	Enhancers	Brain Substantia Nigra	brain
8	chr7:104945400-104950800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:104945400-104951000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:104945400-104953000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:104945400-104954400	Weak transcription	NHEK	skin
12	chr7:104945400-104972600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:104945600-104950600	Enhancers	Brain Hippocampus Middle	brain
14	chr7:104945800-104955400	Weak transcription	Liver	Liver
15	chr7:104945800-104961200	Weak transcription	Ovary	ovary
16	chr7:104946000-104950600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:104946200-104950800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:104946200-104950800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr7:104946200-104957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:104946400-104950600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:104946400-104950800	Enhancers	Brain Anterior Caudate	brain
22	chr7:104947000-104954000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:104947400-104950600	Enhancers	Colon Smooth Muscle	Colon
24	chr7:104948400-104950600	Enhancers	Brain Angular Gyrus	brain
25	chr7:104948400-104950800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:104948400-104950800	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:104948600-104950600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:104948600-104950800	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:104948600-104950800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:104948600-104988000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:104948800-104951600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:104949000-104951000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:104949200-104950600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:104949200-104950600	Enhancers	Fetal Kidney	kidney
35	chr7:104949200-104950800	Enhancers	Fetal Thymus	thymus
36	chr7:104949400-104950600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:104949400-104950600	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:104949400-104951200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr7:104949800-104950600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:104949800-104950600	Enhancers	Primary B cells from cord blood	blood
41	chr7:104949800-104950600	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:104949800-104950800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:104949800-104951000	Flanking Active TSS	Dnd41	blood
44	chr7:104950000-104950600	Enhancers	Adipose Nuclei	Adipose
45	chr7:104950000-104950600	Enhancers	Thymus	Thymus
46	chr7:104950000-104950600	Enhancers	A549	lung
47	chr7:104950000-104950600	Enhancers	NHDF-Ad	bronchial
48	chr7:104950000-104950800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:104950000-104950800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:104950000-104950800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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