Variant report

Variant	rs530310533
Chromosome Location	chr7:104905818-104905819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104893338..104895687-chr7:104903857..104906194,3	K562	blood:
2	chr7:104905394..104907568-chr7:104922706..104925372,2	MCF-7	breast:
3	chr7:104903407..104906399-chr7:105027736..105030512,2	MCF-7	breast:
4	chr7:104904327..104906020-chr7:104907361..104909325,2	K562	blood:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS 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	5 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
6	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
8	chr7:104897600-104906800	Weak transcription	Right Ventricle	heart
9	chr7:104897600-104907400	Weak transcription	Right Atrium	heart
10	chr7:104898000-104907200	Weak transcription	Fetal Kidney	kidney
11	chr7:104898200-104907200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:104898600-104909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:104898600-104909000	Weak transcription	Small Intestine	intestine
14	chr7:104898800-104906000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:104898800-104906400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:104898800-104907800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:104898800-104907800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:104899000-104906800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:104899400-104907000	Weak transcription	Primary B cells from cord blood	blood
20	chr7:104902200-104906400	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr7:104902400-104906800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:104902600-104906400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:104902600-104907000	Weak transcription	Adipose Nuclei	Adipose
24	chr7:104902600-104907000	Weak transcription	HSMM	muscle
25	chr7:104902600-104907200	Weak transcription	Fetal Heart	heart
26	chr7:104902600-104907200	Weak transcription	NHLF	lung
27	chr7:104902600-104907400	Weak transcription	Hela-S3	cervix
28	chr7:104902600-104907600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:104902600-104907600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:104902600-104907600	Weak transcription	NHDF-Ad	bronchial
31	chr7:104902600-104907800	Weak transcription	Liver	Liver
32	chr7:104902600-104907800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:104902600-104907800	Weak transcription	Osteobl	bone
34	chr7:104902600-104908000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:104902800-104907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:104902800-104907200	Weak transcription	HSMMtube	muscle
37	chr7:104902800-104908400	Weak transcription	A549	lung
38	chr7:104903000-104906800	Weak transcription	Primary T cells from cord blood	blood
39	chr7:104903000-104907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:104903000-104907200	Weak transcription	Fetal Brain Female	brain
41	chr7:104903000-104907200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:104903000-104907800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:104903000-104908600	Weak transcription	Left Ventricle	heart
44	chr7:104903200-104906600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:104903200-104907000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:104903200-104907800	Weak transcription	Stomach Mucosa	stomach
47	chr7:104903200-104908600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:104903200-104909200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:104903400-104906600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:104903400-104907200	Weak transcription	HMEC	breast

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