Variant report

Variant	rs369994745
Chromosome Location	chr1:185010256-185010257
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	CEBPB	chr1:185010103-185010393	K562	blood:	n/a	chr1:185010245-185010256
2	ZNF384	chr1:185010197-185010384	K562	blood:	n/a	n/a
3	CEBPB	chr1:185010099-185010331	HepG2	liver:	n/a	chr1:185010245-185010256

No.	Distal block	Cell Line	Cell type
1	chr1:185010099..185012707-chr1:185046027..185047994,2	K562	blood:
2	chr1:185009803..185012714-chr1:185013040..185014804,2	MCF-7	breast:
3	chr1:184983211..184985118-chr1:185007746..185010406,2	K562	blood:
4	chr1:185000396..185004587-chr1:185007338..185010464,3	K562	blood:

Variant related genes	Relation type
RNF2	TF binding region
ENSG00000121481	Chromatin interaction
ENSG00000201312	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised 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	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522073	chr1:184986725-185013349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3320919	chr1:185008329-185013127	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv3520379	chr1:185008679-185012827	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv3520382	chr1:185009079-185012777	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv7397	chr1:185009541-185011955	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3320916	chr1:185009692-185011818	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3520384	chr1:185009709-185011839	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3415445	chr1:185009714-185011812	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3520380	chr1:185009726-185011770	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
13	esv3320914	chr1:185009729-185011807	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
14	esv3320915	chr1:185009730-185011803	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
15	esv3320917	chr1:185009746-185011759	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
16	esv3520383	chr1:185009746-185011786	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
17	esv3520386	chr1:185009756-185011778	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
18	esv3377306	chr1:185009766-185011756	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
19	nsv825609	chr1:185009774-185011720	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
20	esv3320913	chr1:185009786-185011741	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
21	esv3520381	chr1:185009798-185011741	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
22	nsv825620	chr1:185009802-185011720	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
23	esv3320920	chr1:185009802-185011739	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
24	esv3520387	chr1:185009802-185011739	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
25	esv19028	chr1:185009886-185011740	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
26	nsv548376	chr1:185009911-185010779	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
27	nsv548377	chr1:185009911-185010904	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
28	nsv548378	chr1:185009911-185010964	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
29	nsv548379	chr1:185009911-185011091	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
30	nsv548380	chr1:185009911-185011239	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
31	nsv548381	chr1:185009911-185011526	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
32	nsv548382	chr1:185010002-185011239	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
33	nsv548383	chr1:185010107-185011239	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
34	nsv548384	chr1:185010210-185011239	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
35	nsv548385	chr1:185010210-185011526	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells	blood
2	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:185009400-185011000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:185010000-185010600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:185010200-185010400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:185010200-185014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:185010200-185014000	Weak transcription	Fetal Muscle Leg	muscle

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