Variant report

Variant	rs566042712
Chromosome Location	chr7:150973755-150973756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr7:150972799-150975095	HEK293-T-REx	kidney:	n/a	chr7:150973492-150973501 chr7:150973635-150973644
2	MAZ	chr7:150973755-150974489	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150972599..150974856-chr7:151038814..151040776,2	MCF-7	breast:
2	chr7:150971574..150974411-chr7:151038667..151040359,3	K562	blood:
3	chr7:150941689..150943266-chr7:150971664..150974365,2	K562	blood:
4	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
5	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
6	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000033050	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000013374	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv465216	chr7:150951819-150991795	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv609036	chr7:150951819-150991795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1023436	chr7:150967147-150997692	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1022782	chr7:150970748-150992935	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3403100	chr7:150972819-150975817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150968000-150974000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:150968200-150973800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:150970000-150974200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:150970600-150974000	Weak transcription	Left Ventricle	heart
5	chr7:150970800-150975000	Enhancers	Spleen	Spleen
6	chr7:150971600-150973800	Weak transcription	Right Atrium	heart
7	chr7:150972400-150973800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr7:150972600-150973800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:150972600-150974000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150972600-150974200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr7:150972800-150973800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr7:150972800-150973800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:150972800-150973800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr7:150972800-150973800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr7:150972800-150973800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:150972800-150973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:150972800-150973800	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr7:150972800-150973800	Bivalent Enhancer	Placenta	Placenta
19	chr7:150972800-150974000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:150972800-150974400	Active TSS	Rectal Smooth Muscle	rectum
21	chr7:150972800-150974800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:150973000-150973800	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr7:150973000-150973800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:150973000-150973800	Enhancers	Right Ventricle	heart
25	chr7:150973000-150973800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:150973000-150974000	Flanking Active TSS	Fetal Brain Male	brain
27	chr7:150973000-150974000	Enhancers	Lung	lung
28	chr7:150973000-150974400	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:150973200-150973800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150973200-150973800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr7:150973200-150973800	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr7:150973200-150973800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr7:150973200-150973800	Bivalent Enhancer	Fetal Thymus	thymus
34	chr7:150973200-150973800	Enhancers	Gastric	stomach
35	chr7:150973200-150973800	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr7:150973200-150973800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr7:150973200-150974000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:150973200-150974200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:150973200-150974200	Weak transcription	Liver	Liver
40	chr7:150973200-150974400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:150973200-150974600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:150973200-150974800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:150973200-150974800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:150973200-150974800	Enhancers	Fetal Heart	heart
45	chr7:150973400-150973800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:150973400-150973800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:150973400-150973800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:150973400-150973800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:150973400-150973800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr7:150973400-150973800	Flanking Active TSS	Fetal Kidney	kidney

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