Variant report

Variant	rs187163552
Chromosome Location	chr7:14943266-14943267
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	MAX	chr7:14943040-14943289	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr7:14943024-14943459	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr7:14941798-14943404	SK-N-SH	brain:	n/a	chr7:14942146-14942156
4	POLR2A	chr7:14943189-14943280	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:14942581-14943352	H1-neurons	neurons:	n/a	n/a
6	CTBP2	chr7:14942158-14943272	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr7:14942995-14943465	H1-hESC	embryonic stem cell:	n/a	n/a
8	KAP1	chr7:14942099-14943389	HEK293	kidney:	n/a	n/a
9	TCF12	chr7:14943013-14943339	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr7:14941893-14943364	SK-N-SH_RA	brain:	n/a	n/a
11	GATA2	chr7:14941993-14943284	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
DGKB	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2758104	chr7:14896877-15299786	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759512	chr7:14896877-15299786	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1027520	chr7:14905287-15035993	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538742	chr7:14905287-15035993	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv887716	chr7:14933955-15021223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv8055	chr7:14942299-14948564	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14939200-14943800	Active TSS	Brain Anterior Caudate	brain
2	chr7:14939600-14943600	Active TSS	Brain Angular Gyrus	brain
3	chr7:14939600-14943800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:14941400-14943400	Active TSS	Brain Hippocampus Middle	brain
5	chr7:14941400-14943400	Active TSS	Fetal Brain Female	brain
6	chr7:14941600-14943400	Active TSS	Brain Substantia Nigra	brain
7	chr7:14942000-14943400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr7:14942000-14943400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:14942000-14943400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr7:14942000-14943400	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr7:14942000-14943400	Active TSS	Right Atrium	heart
12	chr7:14942200-14943400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:14942400-14943600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:14942600-14943400	Flanking Active TSS	Fetal Heart	heart
15	chr7:14942800-14943400	Bivalent Enhancer	Fetal Lung	lung
16	chr7:14942800-14943400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:14942800-14943400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:14942800-14943600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:14943000-14943400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:14943000-14943400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr7:14943000-14943400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:14943000-14943400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:14943000-14943400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr7:14943000-14943400	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:14943000-14943400	Flanking Active TSS	Osteobl	bone
26	chr7:14943000-14943600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:14943000-14943600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:14943200-14943400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr7:14943200-14943400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:14943200-14943400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:14943200-14943400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr7:14943200-14943400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr7:14943200-14943400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
34	chr7:14943200-14943400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:14943200-14943400	Enhancers	Colon Smooth Muscle	Colon
36	chr7:14943200-14943400	Bivalent Enhancer	Fetal Brain Male	brain
37	chr7:14943200-14943400	Bivalent Enhancer	Fetal Kidney	kidney
38	chr7:14943200-14943400	Enhancers	Psoas Muscle	Psoas
39	chr7:14943200-14943400	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:14943200-14943400	Active TSS	Stomach Smooth Muscle	stomach
41	chr7:14943200-14943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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