Variant report

Variant	rs544294242
Chromosome Location	chr7:104898277-104898278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104890216..104893018-chr7:104897423..104900351,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:93 , 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	chr7:104877200-104898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
5	chr7:104886000-104902200	Weak transcription	Lung	lung
6	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:104889600-104902200	Weak transcription	HMEC	breast
8	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
9	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:104896000-104898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
12	chr7:104896600-104898400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:104896600-104900000	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:104896800-104898600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:104896800-104898600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:104896800-104898600	Enhancers	Fetal Muscle Leg	muscle
17	chr7:104896800-104898800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr7:104896800-104898800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:104896800-104899200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:104896800-104899200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:104896800-104902200	Weak transcription	Gastric	stomach
22	chr7:104897000-104898600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:104897000-104899400	Enhancers	Primary B cells from cord blood	blood
24	chr7:104897000-104905400	Weak transcription	Fetal Brain Male	brain
25	chr7:104897200-104898400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:104897200-104898400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:104897200-104898600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:104897200-104898600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:104897200-104898600	Enhancers	Primary T cells from cord blood	blood
30	chr7:104897200-104898600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:104897200-104898600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:104897200-104898600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:104897200-104898600	Flanking Active TSS	Thymus	Thymus
34	chr7:104897200-104898600	Enhancers	Hela-S3	cervix
35	chr7:104897200-104898600	Enhancers	K562	blood
36	chr7:104897200-104898800	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:104897200-104899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:104897200-104899000	Enhancers	Brain Hippocampus Middle	brain
39	chr7:104897400-104898600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:104897400-104898600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:104897400-104898600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:104897400-104898600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:104897400-104898600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:104897400-104898600	Enhancers	Colonic Mucosa	Colon
45	chr7:104897400-104898600	Flanking Active TSS	Fetal Thymus	thymus
46	chr7:104897400-104898800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:104897400-104899000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:104897400-104899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:104897400-104899400	Flanking Active TSS	Dnd41	blood
50	chr7:104897400-104899600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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