Variant report

Variant	rs74951423
Chromosome Location	chr7:99901232-99901233
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	PAX5	chr7:99900643-99901416	GM12878	blood:	n/a	chr7:99900934-99900952 chr7:99900932-99900951
2	POU2F2	chr7:99900289-99903086	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:99901189-99901640	GM12878	blood:	n/a	n/a
4	PAX5	chr7:99900504-99902680	GM12878	blood:	n/a	chr7:99900934-99900952 chr7:99900932-99900951
5	PAX5	chr7:99900718-99901872	GM12878	blood:	n/a	chr7:99900934-99900952 chr7:99900932-99900951
6	POLR2A	chr7:99900354-99901956	GM12878	blood:	n/a	n/a
7	POU2F2	chr7:99900728-99901236	GM12891	blood:	n/a	n/a
8	SP1	chr7:99901190-99901613	GM12878	blood:	n/a	n/a
9	IRF4	chr7:99900666-99901935	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SPDYE3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv970913	chr7:99877685-99904859	Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:99870200-99932800	Weak transcription	Ovary	ovary
3	chr7:99870400-99901600	Weak transcription	Thymus	Thymus
4	chr7:99870400-99904600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:99870400-99917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:99870400-99917000	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:99870400-99917600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:99870400-99923400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:99870600-99904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:99870600-99916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:99870600-99923400	Weak transcription	Spleen	Spleen
13	chr7:99870600-99926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:99870800-99904600	Weak transcription	Dnd41	blood
16	chr7:99871000-99917000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:99871000-99923000	Weak transcription	Brain Germinal Matrix	brain
18	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
19	chr7:99880400-99917800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:99882000-99903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:99884400-99916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:99886800-99901600	Weak transcription	Fetal Stomach	stomach
23	chr7:99887400-99932800	Weak transcription	Brain Anterior Caudate	brain
24	chr7:99889400-99915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:99890200-99914200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:99890400-99917000	Weak transcription	Fetal Brain Female	brain
27	chr7:99892800-99901800	Weak transcription	Fetal Intestine Small	intestine
28	chr7:99893600-99914200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:99893600-99917000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:99893600-99917800	Weak transcription	Lung	lung
31	chr7:99893600-99918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:99896400-99917000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:99896600-99924600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:99896600-99931800	Weak transcription	K562	blood
35	chr7:99897600-99933200	Weak transcription	Pancreas	Pancrea
36	chr7:99898000-99932800	Weak transcription	Brain Substantia Nigra	brain
37	chr7:99899200-99901600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:99900200-99902400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:99901000-99902400	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:99901000-99902400	Enhancers	Fetal Thymus	thymus
41	chr7:99901200-99902400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:99901200-99923400	Weak transcription	Rectal Mucosa Donor 29	rectum

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