Variant report

Variant	rs562339521
Chromosome Location	chr7:33170066-33170067
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	GATA2	chr7:33169861-33170258	SH-SY5Y	brain:	n/a	chr7:33170071-33170080
2	GATA2	chr7:33169821-33170242	HUVEC	blood vessel:	n/a	chr7:33169843-33169854 chr7:33170071-33170080
3	MXI1	chr7:33167888-33170301	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr7:33169725-33170269	SH-SY5Y	brain:	n/a	chr7:33169843-33169854 chr7:33170071-33170080

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33169914..33172476-chr7:33187197..33189119,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228015	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv508450	chr7:33123335-33184848	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1033502	chr7:33124005-33185470	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025361	chr7:33125663-33185470	Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv869720	chr7:33127192-33193580	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1026615	chr7:33128234-33185470	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020741	chr7:33130675-33185470	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027807	chr7:33130675-33190591	Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2761318	chr7:33130687-33185482	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464422	chr7:33131729-33187279	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv606606	chr7:33131729-33187279	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606607	chr7:33131729-33192502	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv464423	chr7:33131729-33192800	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606608	chr7:33131729-33192800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv520406	chr7:33131729-33192837	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv606609	chr7:33131729-33196354	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1030007	chr7:33132814-33185470	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1028637	chr7:33133742-33185470	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv933681	chr7:33169539-33185909	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv933792	chr7:33169693-33216984	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv532119	chr7:33169715-33186579	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33168000-33170200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:33168200-33170200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:33168200-33170200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:33168200-33170200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:33168200-33170200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:33168200-33170200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr7:33168200-33170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:33168400-33170200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:33168400-33170200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:33168400-33170200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:33168400-33170200	Active TSS	Aorta	Aorta
12	chr7:33168400-33170200	Active TSS	Fetal Muscle Trunk	muscle
13	chr7:33168400-33170200	Active TSS	Ovary	ovary
14	chr7:33168400-33170200	Active TSS	Psoas Muscle	Psoas
15	chr7:33168400-33170200	Active TSS	Right Ventricle	heart
16	chr7:33168400-33170200	Active TSS	A549	lung
17	chr7:33169200-33170200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:33169200-33170200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:33169200-33170200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:33169200-33170200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:33169400-33170200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:33169400-33170200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr7:33169400-33170200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:33169400-33170200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr7:33169400-33170200	Active TSS	Right Atrium	heart
26	chr7:33169400-33170200	Flanking Active TSS	NHEK	skin
27	chr7:33169400-33170800	Active TSS	Brain Germinal Matrix	brain
28	chr7:33169600-33170200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:33169600-33170200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:33169600-33170200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:33169600-33170200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:33169600-33170200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:33169600-33170200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:33169600-33170200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr7:33169600-33170200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:33169600-33170200	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr7:33169600-33170200	Flanking Active TSS	Fetal Lung	lung
38	chr7:33169600-33170200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:33169600-33170200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:33169600-33170200	Flanking Active TSS	Dnd41	blood
41	chr7:33169600-33170200	Flanking Active TSS	Hela-S3	cervix
42	chr7:33169600-33170200	Flanking Active TSS	HMEC	breast
43	chr7:33169600-33170200	Flanking Active TSS	HSMMtube	muscle
44	chr7:33169600-33170200	Flanking Active TSS	HUVEC	blood vessel
45	chr7:33169600-33170200	Flanking Active TSS	K562	blood
46	chr7:33169600-33170200	Flanking Active TSS	NH-A	brain
47	chr7:33169600-33170400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:33169600-33170400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:33169600-33170400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:33169800-33170200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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