Variant report

Variant	rs538453778
Chromosome Location	chr4:8419544-8419545
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8419092..8423241-chr4:8430004..8433236,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087008	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	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
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv964028	chr4:8418957-8430160	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
2	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:8404800-8420600	Weak transcription	Psoas Muscle	Psoas
5	chr4:8408800-8422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:8412400-8421000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:8412800-8420600	Weak transcription	K562	blood
8	chr4:8412800-8425600	Weak transcription	Fetal Heart	heart
9	chr4:8413000-8423400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:8416400-8421400	Weak transcription	HSMM	muscle
11	chr4:8416400-8428000	Weak transcription	Fetal Brain Male	brain
12	chr4:8416800-8421200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:8416800-8421400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:8416800-8429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:8416800-8429000	Weak transcription	Brain Substantia Nigra	brain
16	chr4:8416800-8429000	Weak transcription	Fetal Kidney	kidney
17	chr4:8416800-8429000	Weak transcription	HUVEC	blood vessel
18	chr4:8417000-8420800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:8417000-8421200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:8417000-8421600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:8417000-8428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:8417000-8429000	Weak transcription	Small Intestine	intestine
23	chr4:8417200-8421200	Weak transcription	NHLF	lung
24	chr4:8417600-8428800	Weak transcription	Dnd41	blood
25	chr4:8417800-8420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:8417800-8421200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:8417800-8421400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:8417800-8421400	Weak transcription	NH-A	brain
29	chr4:8417800-8428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:8417800-8428800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:8417800-8428800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:8417800-8429000	Weak transcription	Primary B cells from cord blood	blood
33	chr4:8417800-8429000	Weak transcription	Colonic Mucosa	Colon
34	chr4:8417800-8429000	Weak transcription	HSMMtube	muscle
35	chr4:8417800-8429200	Weak transcription	Fetal Lung	lung
36	chr4:8418000-8421200	Weak transcription	HepG2	liver
37	chr4:8418000-8421200	Weak transcription	Osteobl	bone
38	chr4:8418000-8421400	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:8418000-8421400	Weak transcription	Left Ventricle	heart
40	chr4:8418000-8428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:8418000-8428800	Weak transcription	Stomach Mucosa	stomach
42	chr4:8418000-8429000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:8418000-8429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:8418000-8429000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:8418200-8420000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:8418200-8420400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:8418200-8421200	Weak transcription	Gastric	stomach
48	chr4:8418200-8421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:8418200-8421400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:8418200-8421400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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