Variant report

Variant	rs115130619
Chromosome Location	chr4:87965260-87965261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87951686..87953695-chr4:87963099..87965280,2	K562	blood:
2	chr4:87925370..87929364-chr4:87963200..87966939,5	K562	blood:
3	chr4:87963284..87965045-chr4:87965190..87967797,2	K562	blood:
4	chr4:87960294..87962501-chr4:87964781..87966501,2	K562	blood:
5	chr4:87964446..87966356-chr4:87966393..87968677,2	MCF-7	breast:
6	chr4:87963142..87968842-chr4:87969641..87976222,9	K562	blood:
7	chr4:87926139..87929364-chr4:87964361..87966939,5	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:87954600-87965800	Enhancers	Colon Smooth Muscle	Colon
6	chr4:87958600-87965800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:87958800-87968000	Weak transcription	Esophagus	oesophagus
8	chr4:87959200-87967000	Weak transcription	Dnd41	blood
9	chr4:87959400-87966400	Enhancers	Left Ventricle	heart
10	chr4:87959600-87967200	Enhancers	Psoas Muscle	Psoas
11	chr4:87959800-87966000	Weak transcription	Aorta	Aorta
12	chr4:87960400-87965600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:87960400-87965800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:87960400-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:87960400-87975400	Weak transcription	Brain Germinal Matrix	brain
16	chr4:87960600-87965600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:87960800-87965400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:87960800-87965400	Weak transcription	Fetal Stomach	stomach
19	chr4:87960800-87965400	Weak transcription	NHLF	lung
20	chr4:87960800-87965600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:87960800-87965600	Weak transcription	NH-A	brain
22	chr4:87960800-87965800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:87960800-87966000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:87960800-87968000	Weak transcription	HSMM	muscle
25	chr4:87961000-87979200	Weak transcription	HSMMtube	muscle
26	chr4:87961200-87967800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:87961600-87966000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:87961800-87966000	Weak transcription	Thymus	Thymus
29	chr4:87962200-87966400	Enhancers	Adipose Nuclei	Adipose
30	chr4:87962400-87965600	Enhancers	K562	blood
31	chr4:87962400-87966200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:87962400-87966400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:87962400-87967000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:87962400-87967000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:87962400-87967400	Enhancers	Right Ventricle	heart
36	chr4:87962600-87965600	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:87962600-87965800	Weak transcription	Ovary	ovary
38	chr4:87962800-87965400	Weak transcription	NHDF-Ad	bronchial
39	chr4:87962800-87965600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:87962800-87965600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:87962800-87966200	Enhancers	Primary B cells from cord blood	blood
42	chr4:87963000-87965400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:87963000-87965400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:87963000-87965400	Weak transcription	Osteobl	bone
45	chr4:87963200-87965400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:87963200-87967200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:87963200-87982200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:87963400-87965600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:87963400-87965800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:87963400-87965800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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