Variant report

Variant	rs551728911
Chromosome Location	chr7:138348979-138348980
allele	C/T
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	REST	chr7:138348233-138349002	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr7:138348973-138349080	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:138348840-138348990	HRE	kidney:	n/a	n/a
4	POLR2A	chr7:138348971-138349206	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:138348380-138349045	H1-neurons	neurons:	n/a	n/a
6	HA-E2F1	chr7:138348977-138349459	MCF-7	breast:	n/a	chr7:138348988-138349002
7	GATA3	chr7:138348908-138349217	T-47D	breast:	n/a	n/a
8	SIN3A	chr7:138348393-138349373	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:

Variant related genes	Relation type
SVOPL	TF binding region
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh 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
2	esv3325609	chr7:138348437-138351285	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3426851	chr7:138348612-138351035	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 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	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
2	chr7:138348400-138349000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:138348400-138349000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:138348400-138349000	Active TSS	Brain Germinal Matrix	brain
5	chr7:138348400-138349000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:138348400-138349000	Active TSS	Fetal Muscle Leg	muscle
7	chr7:138348400-138349000	Active TSS	HMEC	breast
8	chr7:138348400-138349000	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:138348400-138349200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:138348400-138349200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:138348400-138349400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:138348400-138349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:138348400-138349400	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:138348400-138349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:138348400-138349400	Active TSS	Fetal Kidney	kidney
16	chr7:138348400-138349400	Active TSS	NHEK	skin
17	chr7:138348400-138349600	Active TSS	Primary T cells from cord blood	blood
18	chr7:138348400-138349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:138348400-138349600	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr7:138348400-138349600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:138348400-138349600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr7:138348400-138349600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:138348400-138349600	Active TSS	Fetal Intestine Small	intestine
24	chr7:138348400-138349600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:138348400-138350000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr7:138348400-138350000	Active TSS	Brain Anterior Caudate	brain
27	chr7:138348400-138350000	Active TSS	Brain Hippocampus Middle	brain
28	chr7:138348400-138350000	Active TSS	Brain Substantia Nigra	brain
29	chr7:138348400-138350200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr7:138348600-138349000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:138348600-138349000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:138348600-138349000	Active TSS	Liver	Liver
33	chr7:138348600-138349000	Active TSS	Esophagus	oesophagus
34	chr7:138348600-138349000	Active TSS	Fetal Intestine Large	intestine
35	chr7:138348600-138349000	Active TSS	Fetal Stomach	stomach
36	chr7:138348600-138349000	Active TSS	Pancreas	Pancrea
37	chr7:138348600-138349000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr7:138348600-138349000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:138348600-138349000	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:138348600-138349000	Active TSS	Thymus	Thymus
41	chr7:138348600-138349000	Active TSS	NHLF	lung
42	chr7:138348600-138349200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:138348600-138349200	Active TSS	Primary B cells from cord blood	blood
44	chr7:138348600-138349200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:138348600-138349200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:138348600-138349200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:138348600-138349200	Active TSS	Fetal Lung	lung
48	chr7:138348600-138349400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:138348600-138349400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:138348600-138349400	Active TSS	Brain Angular Gyrus	brain

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