Variant report

Variant	rs574120954
Chromosome Location	chr15:100272567-100272568
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	POLR2A	chr15:100272526-100272626	GM12878	blood:	n/a	n/a
2	NFYB	chr15:100272553-100272827	GM12878	blood:	n/a	n/a
3	MAZ	chr15:100272245-100274211	IMR90	lung:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
4	CEBPB	chr15:100272526-100272959	IMR90	lung:	n/a	chr15:100272604-100272615
5	SIN3A	chr15:100272525-100273744	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:100272567-100274201	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr15:100272232-100272847	H1-hESC	embryonic stem cell:	n/a	chr15:100272342-100272349
8	HCFC1	chr15:100272137-100274363	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99789846..99791808-chr15:100272487..100274799,2	MCF-7	breast:

Variant related genes	Relation type
LYSMD4	TF binding region
ENSG00000103852	Chromatin interaction
ENSG00000168904	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1038005	chr15:100170414-100633714	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542522	chr15:100170414-100633714	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv904560	chr15:100196657-100339331	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv904561	chr15:100204918-100486828	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv428313	chr15:100236203-100757039	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh 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
9	nsv904563	chr15:100239546-100274747	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv570730	chr15:100240910-100700520	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1045838	chr15:100243067-101032218	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv904564	chr15:100245296-100723798	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv932678	chr15:100250311-101012358	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
14	esv3356054	chr15:100272454-100275002	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100249600-100272800	Weak transcription	Small Intestine	intestine
2	chr15:100261800-100272600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:100269600-100272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:100269800-100272600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:100269800-100272800	Weak transcription	Gastric	stomach
6	chr15:100271200-100274000	Active TSS	Fetal Intestine Large	intestine
7	chr15:100271400-100272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:100271400-100273000	Flanking Active TSS	HMEC	breast
9	chr15:100271600-100272600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr15:100271600-100272600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr15:100271600-100273000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr15:100271600-100273000	Flanking Active TSS	NHEK	skin
13	chr15:100271600-100273200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:100271600-100274200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:100271800-100272600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr15:100271800-100272600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:100271800-100272600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:100271800-100272600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr15:100271800-100272600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr15:100271800-100272600	Enhancers	GM12878-XiMat	blood
21	chr15:100271800-100272800	Enhancers	Spleen	Spleen
22	chr15:100271800-100273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:100271800-100273000	Flanking Active TSS	Fetal Brain Female	brain
24	chr15:100271800-100273200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr15:100271800-100273400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr15:100271800-100274200	Active TSS	Rectal Smooth Muscle	rectum
27	chr15:100272000-100272600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr15:100272000-100272600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:100272000-100272800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr15:100272000-100272800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr15:100272000-100272800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:100272000-100272800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr15:100272000-100272800	Flanking Active TSS	Fetal Lung	lung
34	chr15:100272000-100273000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:100272000-100273000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr15:100272000-100273000	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr15:100272000-100273200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr15:100272000-100273200	Flanking Active TSS	Dnd41	blood
39	chr15:100272000-100273600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr15:100272000-100274000	Active TSS	Colon Smooth Muscle	Colon
41	chr15:100272000-100274000	Active TSS	Fetal Intestine Small	intestine
42	chr15:100272000-100274200	Active TSS	NHLF	lung
43	chr15:100272200-100272600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:100272200-100272600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:100272200-100272600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr15:100272200-100272600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:100272200-100272600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:100272200-100272600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr15:100272200-100272600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:100272200-100272800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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