Variant report

Variant	rs538852719
Chromosome Location	chr4:8195737-8195738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8194111..8197514-chr4:8198468..8201950,4	K562	blood:
2	chr4:8193914..8196178-chr4:8208983..8211317,3	MCF-7	breast:
3	chr4:8195725..8198126-chr4:8238876..8240631,2	MCF-7	breast:
4	chr4:8018368..8020892-chr4:8193998..8196693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking 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	8 gene(s)	inside rSNPs	diseases
15	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel
3	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
4	chr4:8191400-8199800	Weak transcription	Liver	Liver
5	chr4:8191800-8196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:8191800-8200800	Enhancers	Placenta	Placenta
7	chr4:8192000-8196400	Weak transcription	Right Atrium	heart
8	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:8192400-8197600	Weak transcription	Colonic Mucosa	Colon
10	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:8193600-8196000	Weak transcription	HMEC	breast
13	chr4:8193600-8196000	Weak transcription	NHEK	skin
14	chr4:8193600-8196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:8193600-8196600	Weak transcription	Left Ventricle	heart
16	chr4:8193600-8200400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:8194000-8196600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:8194200-8198000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:8194200-8199200	Enhancers	Thymus	Thymus
21	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
22	chr4:8194600-8195800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:8194600-8195800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:8194800-8195800	Enhancers	Right Ventricle	heart
25	chr4:8194800-8196000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:8194800-8196400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:8194800-8197600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:8194800-8198200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:8195000-8195800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:8195000-8196000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:8195000-8196200	Weak transcription	Adipose Nuclei	Adipose
32	chr4:8195000-8199600	Weak transcription	Gastric	stomach
33	chr4:8195000-8200000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:8195000-8200000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:8195000-8200000	Weak transcription	Fetal Heart	heart
36	chr4:8195000-8200200	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:8195000-8200400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:8195200-8196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:8195200-8196600	Weak transcription	Lung	lung
40	chr4:8195200-8197600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:8195200-8197600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:8195200-8197800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:8195200-8199000	Weak transcription	A549	lung
44	chr4:8195200-8199800	Weak transcription	Fetal Kidney	kidney
45	chr4:8195200-8199800	Weak transcription	GM12878-XiMat	blood
46	chr4:8195200-8200000	Weak transcription	Hela-S3	cervix
47	chr4:8195400-8196000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:8195400-8196600	Enhancers	Fetal Lung	lung
49	chr4:8195400-8197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:8195400-8197200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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