Variant report

Variant	rs59549594
Chromosome Location	chr7:100847519-100847520
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	REST	chr7:100847444-100847867	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr7:100847341-100856339	HepG2	liver:	n/a	n/a
3	GABPA	chr7:100847464-100847919	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100845614..100849082-chr7:100852501..100856274,3	K562	blood:
2	chr7:100846805..100850556-chr7:100852421..100856995,5	K562	blood:
3	chr7:100843889..100849523-chr7:100857776..100861352,9	MCF-7	breast:

Variant related genes	Relation type
DGAT2L7P	TF binding region
MOGAT3	TF binding region
ENSG00000106397	Chromatin interaction
ENSG00000106400	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv888816	chr7:100792810-100862264	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic 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 miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
21	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv970915	chr7:100846996-100852070	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100844600-100853600	Weak transcription	A549	lung
2	chr7:100844600-100856800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:100844600-100859000	Weak transcription	Hela-S3	cervix
4	chr7:100845000-100847800	Enhancers	Spleen	Spleen
5	chr7:100845400-100847600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr7:100845600-100849000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100845600-100849400	Weak transcription	Lung	lung
8	chr7:100845800-100849200	Weak transcription	Liver	Liver
9	chr7:100845800-100849400	Weak transcription	Pancreas	Pancrea
10	chr7:100845800-100849600	Weak transcription	Gastric	stomach
11	chr7:100845800-100852000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:100845800-100859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:100846000-100849000	Weak transcription	Right Ventricle	heart
14	chr7:100846000-100849400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:100846000-100852000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:100846200-100849200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:100846400-100847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:100846400-100847800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:100846400-100849200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:100846400-100849400	Weak transcription	Colonic Mucosa	Colon
21	chr7:100846400-100849400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:100846400-100851200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:100846600-100848400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:100846600-100849200	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:100846600-100849400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:100846600-100849400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:100846600-100853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:100846600-100853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:100846600-100858200	Weak transcription	NHDF-Ad	bronchial
30	chr7:100846800-100847800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:100846800-100847800	Enhancers	K562	blood
32	chr7:100846800-100849000	Weak transcription	Fetal Intestine Large	intestine
33	chr7:100846800-100849000	Weak transcription	Ovary	ovary
34	chr7:100846800-100849200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:100846800-100849400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:100846800-100849400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:100846800-100850800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:100846800-100854400	Weak transcription	HUVEC	blood vessel
39	chr7:100847000-100847800	Enhancers	Placenta	Placenta
40	chr7:100847000-100848400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:100847000-100849000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:100847000-100849000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:100847000-100849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:100847000-100849200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:100847000-100849200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:100847000-100849200	Weak transcription	NHEK	skin
47	chr7:100847000-100849400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:100847000-100849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:100847000-100849400	Weak transcription	Brain Angular Gyrus	brain
50	chr7:100847000-100849400	Weak transcription	Brain Cingulate Gyrus	brain

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