Variant report

Variant	rs7178109
Chromosome Location	chr15:83417993-83417994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:83417910-83418216	K562	blood:	n/a	n/a
2	POLR2A	chr15:83417879-83418073	ProgFib	skin:	n/a	n/a
3	POLR2A	chr15:83417699-83419529	K562	blood:	n/a	n/a
4	POLR2A	chr15:83417889-83418066	K562	blood:	n/a	n/a
5	POLR2A	chr15:83417865-83418149	MCF-7	breast:	n/a	n/a
6	EGR1	chr15:83417882-83418194	K562	blood:	n/a	n/a
7	SRF	chr15:83417883-83419867	HCT-116	colon:	n/a	chr15:83418327-83418345
8	RCOR1	chr15:83417963-83419931	K562	blood:	n/a	n/a
9	MYC	chr15:83417981-83419993	K562	blood:	n/a	n/a
10	HEY1	chr15:83417878-83419611	K562	blood:	n/a	n/a
11	MAX	chr15:83417962-83420011	HCT-116	colon:	n/a	n/a
12	POLR2A	chr15:83417956-83419815	PFSK-1	brain:	n/a	n/a
13	EGR1	chr15:83417913-83418240	K562	blood:	n/a	n/a
14	CBX3	chr15:83417795-83418639	K562	blood:	n/a	n/a
15	YY1	chr15:83417908-83418143	K562	blood:	n/a	n/a
16	POLR2A	chr15:83417888-83420014	K562	blood:	n/a	n/a
17	POLR2A	chr15:83417823-83420063	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:83417905-83418237	K562	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83346016..83350104-chr15:83417380..83419228,3	K562	blood:
2	chr15:83377715..83379913-chr15:83416850..83419570,2	K562	blood:
3	chr15:83406503..83408582-chr15:83417550..83419434,2	K562	blood:
4	chr15:83409906..83413739-chr15:83417431..83421180,7	MCF-7	breast:
5	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
6	chr15:83366312..83369718-chr15:83416708..83419690,4	MCF-7	breast:
7	chr15:83376531..83379793-chr15:83416772..83420723,7	MCF-7	breast:
8	chr15:83417301..83420117-chr15:83653856..83657124,3	MCF-7	breast:
9	chr15:83417632..83419477-chr15:83677725..83680505,2	MCF-7	breast:
10	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
11	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
12	chr15:83417131..83419206-chr15:83515270..83517516,2	K562	blood:
13	chr15:83417728..83420230-chr15:83734456..83736230,2	MCF-7	breast:
14	chr15:83346733..83351654-chr15:83416978..83420559,7	MCF-7	breast:
15	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:
16	chr15:83340452..83341988-chr15:83417558..83419179,2	MCF-7	breast:
17	chr15:83417964..83418899-chr6:10415598..10416112,2	Hela-S3	cervix:
18	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
19	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
20	chr15:83417737..83419972-chr15:83734703..83737369,2	K562	blood:
21	chr15:83347146..83349993-chr15:83416756..83419846,3	K562	blood:
22	chr15:83412491..83414976-chr15:83417541..83420012,4	MCF-7	breast:
23	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
24	chr15:83417813..83422044-chr15:83423321..83428058,7	MCF-7	breast:
25	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:
26	chr15:83347977..83352145-chr15:83417264..83422141,9	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WHAMM-3	chr15:83415981-83418056	NONHSAT047858

No data

Variant related genes	Relation type
SCARNA15	TF binding region
ENSG00000250988	TF binding region
ENSG00000259315	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000259442	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000186628	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11852808	1.00[AMR][1000 genomes]
rs11855241	0.83[AMR][1000 genomes]
rs11856140	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8028683	0.83[AMR][1000 genomes]
rs8033406	0.83[AMR][1000 genomes]
rs8036854	1.00[AMR][1000 genomes]

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	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv3413738	chr15:83390947-83422928	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr15:83393800-83418400	Weak transcription	Thymus	Thymus
2	chr15:83394400-83418200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:83394400-83418400	Weak transcription	Primary B cells from cord blood	blood
4	chr15:83394800-83418400	Weak transcription	Brain Angular Gyrus	brain
5	chr15:83395800-83418200	Weak transcription	GM12878-XiMat	blood
6	chr15:83396600-83418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:83398400-83418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:83399200-83418000	Weak transcription	Left Ventricle	heart
9	chr15:83399800-83418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:83399800-83418400	Weak transcription	Adipose Nuclei	Adipose
11	chr15:83400400-83418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:83401200-83418400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:83402000-83418200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:83402400-83418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:83402600-83418200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:83402800-83418200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:83404000-83418000	Weak transcription	Dnd41	blood
18	chr15:83405200-83418400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr15:83405400-83418600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:83406400-83418200	Weak transcription	Liver	Liver
21	chr15:83406800-83418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:83407200-83418200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:83407400-83418400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:83407600-83418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:83407600-83418200	Weak transcription	Primary T cells from cord blood	blood
26	chr15:83407800-83418400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:83408600-83418200	Weak transcription	HSMM	muscle
28	chr15:83411000-83418200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:83411600-83418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:83415400-83418400	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:83416200-83418000	Weak transcription	Pancreas	Pancrea
32	chr15:83416600-83418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:83416800-83418000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:83417200-83418400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:83417200-83418400	Weak transcription	Right Atrium	heart
36	chr15:83417600-83418000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:83417600-83418200	Active TSS	K562	blood
38	chr15:83417800-83418200	Enhancers	Psoas Muscle	Psoas
39	chr15:83417800-83418200	Enhancers	A549	lung
40	chr15:83417800-83418200	Enhancers	HMEC	breast
41	chr15:83417800-83418400	Enhancers	Fetal Muscle Trunk	muscle
42	chr15:83417800-83418800	Enhancers	Spleen	Spleen

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