Variant report

Variant	rs550603949
Chromosome Location	chr7:14943108-14943109
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	PBX3	chr7:14941956-14943202	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr7:14941798-14943404	SK-N-SH	brain:	n/a	chr7:14942146-14942156
5	POLR2A	chr7:14942874-14943112	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr7:14942040-14943216	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr7:14942581-14943352	H1-neurons	neurons:	n/a	n/a
8	CTBP2	chr7:14942158-14943272	H1-hESC	embryonic stem cell:	n/a	n/a
9	GATA3	chr7:14941407-14943259	SK-N-SH	brain:	n/a	chr7:14941437-14941446
10	TEAD4	chr7:14942995-14943465	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr7:14942201-14943182	HEK293-T-REx	kidney:	n/a	chr7:14942632-14942653 chr7:14943042-14943051 chr7:14942597-14942618
12	NFIC	chr7:14941838-14943134	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:14942536-14943256	H1-neurons	neurons:	n/a	n/a
14	KAP1	chr7:14942099-14943389	HEK293	kidney:	n/a	n/a
15	TCF12	chr7:14943013-14943339	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr7:14941893-14943364	SK-N-SH_RA	brain:	n/a	n/a
17	PBX3	chr7:14941794-14943233	SK-N-SH	brain:	n/a	n/a
18	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:64 , 50 per page) page: 1 2

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	chr7:14941400-14943200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:14941400-14943400	Active TSS	Brain Hippocampus Middle	brain
6	chr7:14941400-14943400	Active TSS	Fetal Brain Female	brain
7	chr7:14941600-14943200	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:14941600-14943400	Active TSS	Brain Substantia Nigra	brain
9	chr7:14942000-14943200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:14942000-14943200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:14942000-14943200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:14942000-14943200	Active TSS	Psoas Muscle	Psoas
13	chr7:14942000-14943200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:14942000-14943200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:14942000-14943200	Active TSS	Right Ventricle	heart
16	chr7:14942000-14943400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr7:14942000-14943400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:14942000-14943400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr7:14942000-14943400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr7:14942000-14943400	Active TSS	Right Atrium	heart
21	chr7:14942200-14943200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:14942200-14943200	Enhancers	Pancreas	Pancrea
23	chr7:14942200-14943400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:14942400-14943200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
25	chr7:14942400-14943600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:14942600-14943200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:14942600-14943200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:14942600-14943200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:14942600-14943400	Flanking Active TSS	Fetal Heart	heart
30	chr7:14942800-14943200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr7:14942800-14943200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:14942800-14943200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:14942800-14943200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr7:14942800-14943200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr7:14942800-14943200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:14942800-14943200	Flanking Active TSS	Left Ventricle	heart
37	chr7:14942800-14943200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr7:14942800-14943400	Bivalent Enhancer	Fetal Lung	lung
39	chr7:14942800-14943400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:14942800-14943400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:14942800-14943600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:14943000-14943200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
43	chr7:14943000-14943200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:14943000-14943200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:14943000-14943200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:14943000-14943200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr7:14943000-14943200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr7:14943000-14943200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:14943000-14943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:14943000-14943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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