Variant report

Variant	rs534189323
Chromosome Location	chr7:99919882-99919883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
2	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
11	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv1815812	chr7:99874387-99930879	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv1803899	chr7:99875357-99930879	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv1817757	chr7:99896488-99935709	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv8183	chr7:99896574-99936641	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	esv16361	chr7:99898203-99934029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	esv1844700	chr7:99900098-99922335	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1802263	chr7:99900098-99931667	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
22	esv1832874	chr7:99900098-99931667	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
23	esv1823451	chr7:99900098-99932328	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	esv1797484	chr7:99901968-99932858	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1816915	chr7:99901968-99932858	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	esv1851409	chr7:99901968-99932858	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	esv1830570	chr7:99901968-99945827	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
28	esv1817228	chr7:99904585-99935709	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
29	esv1811927	chr7:99904607-99922335	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
30	esv1809006	chr7:99904607-99928168	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv970561	chr7:99904859-99936381	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
32	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
33	nsv967347	chr7:99918412-99928137	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99932800	Weak transcription	Ovary	ovary
2	chr7:99870400-99923400	Weak transcription	Fetal Intestine Large	intestine
3	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:99870600-99923400	Weak transcription	Spleen	Spleen
5	chr7:99870600-99926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:99871000-99923000	Weak transcription	Brain Germinal Matrix	brain
8	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
9	chr7:99887400-99932800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:99896600-99924600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:99896600-99931800	Weak transcription	K562	blood
12	chr7:99897600-99933200	Weak transcription	Pancreas	Pancrea
13	chr7:99898000-99932800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:99901200-99923400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:99902800-99932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:99911800-99932200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:99912600-99933400	Weak transcription	Fetal Brain Male	brain
18	chr7:99914000-99932800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:99914400-99924600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:99914600-99923000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:99914600-99932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:99914600-99932800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:99914800-99927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:99915000-99932800	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:99915200-99932800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:99915400-99921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:99915400-99923400	Weak transcription	Fetal Lung	lung
28	chr7:99915400-99925800	Weak transcription	Placenta	Placenta
29	chr7:99915400-99930800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:99915400-99932000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:99915400-99932600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:99915400-99932600	Weak transcription	Primary T cells from cord blood	blood
33	chr7:99915400-99932600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:99915600-99921200	Weak transcription	Thymus	Thymus
35	chr7:99915600-99923400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:99915600-99932800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:99915600-99932800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:99915600-99933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:99915600-99933200	Weak transcription	Aorta	Aorta
40	chr7:99915800-99920600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:99915800-99923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:99915800-99923400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:99915800-99924600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:99915800-99924600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:99915800-99926200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:99915800-99930800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:99915800-99931600	Weak transcription	Primary B cells from cord blood	blood
48	chr7:99915800-99932000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:99915800-99932800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:99915800-99932800	Weak transcription	Rectal Smooth Muscle	rectum

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