Variant report

Variant	rs573672845
Chromosome Location	chr7:138348678-138348679
allele	A/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	GATA3	chr7:138348358-138348707	T-47D	breast:	n/a	n/a
2	TEAD4	chr7:138348294-138348874	ECC-1	luminal epithelium:	n/a	n/a
3	KAP1	chr7:138348380-138348782	HEK293	kidney:	n/a	n/a
4	REST	chr7:138348233-138349002	H1-neurons	neurons:	n/a	n/a
5	MXI1	chr7:138348496-138348770	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr7:138348317-138348801	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr7:138348664-138348937	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr7:138348439-138348722	SK-N-SH_RA	brain:	n/a	chr7:138348643-138348657
9	FOXA1	chr7:138348373-138348707	T-47D	breast:	n/a	chr7:138348446-138348458
10	POLR2A	chr7:138348416-138348808	H1-neurons	neurons:	n/a	n/a
11	EP300	chr7:138348331-138348925	ECC-1	luminal epithelium:	n/a	chr7:138348643-138348657
12	FOXA1	chr7:138348341-138348682	T-47D	breast:	n/a	chr7:138348446-138348458
13	POLR2A	chr7:138348380-138349045	H1-neurons	neurons:	n/a	n/a
14	EP300	chr7:138345131-138348889	SK-N-SH	brain:	n/a	chr7:138346991-138347005 chr7:138347217-138347224 chr7:138348643-138348657
15	SIN3A	chr7:138348393-138349373	H1-hESC	embryonic stem cell:	n/a	n/a
16	EP300	chr7:138348413-138348774	T-47D	breast:	n/a	chr7:138348643-138348657
17	TEAD4	chr7:138348433-138348774	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr7:138348281-138348754	T-47D	breast:	n/a	chr7:138348643-138348657
19	MAX	chr7:138348487-138348752	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr7:138348472-138348697	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr7:138348423-138348865	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
SVOPL	TF binding region

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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
2	chr7:138346600-138348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:138348000-138348800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:138348200-138348800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:138348200-138348800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:138348200-138348800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:138348200-138348800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:138348400-138348800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:138348400-138348800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:138348400-138348800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr7:138348400-138348800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:138348400-138348800	Flanking Active TSS	Fetal Brain Female	brain
13	chr7:138348400-138349000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:138348400-138349000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:138348400-138349000	Active TSS	Brain Germinal Matrix	brain
16	chr7:138348400-138349000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:138348400-138349000	Active TSS	Fetal Muscle Leg	muscle
18	chr7:138348400-138349000	Active TSS	HMEC	breast
19	chr7:138348400-138349000	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:138348400-138349200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:138348400-138349200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:138348400-138349400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:138348400-138349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:138348400-138349400	Active TSS	Brain Cingulate Gyrus	brain
25	chr7:138348400-138349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:138348400-138349400	Active TSS	Fetal Kidney	kidney
27	chr7:138348400-138349400	Active TSS	NHEK	skin
28	chr7:138348400-138349600	Active TSS	Primary T cells from cord blood	blood
29	chr7:138348400-138349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:138348400-138349600	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:138348400-138349600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:138348400-138349600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:138348400-138349600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:138348400-138349600	Active TSS	Fetal Intestine Small	intestine
35	chr7:138348400-138349600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:138348400-138350000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:138348400-138350000	Active TSS	Brain Anterior Caudate	brain
38	chr7:138348400-138350000	Active TSS	Brain Hippocampus Middle	brain
39	chr7:138348400-138350000	Active TSS	Brain Substantia Nigra	brain
40	chr7:138348400-138350200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr7:138348600-138348800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:138348600-138348800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:138348600-138348800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:138348600-138348800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:138348600-138348800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:138348600-138348800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:138348600-138348800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr7:138348600-138348800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr7:138348600-138348800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
50	chr7:138348600-138348800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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