Variant report

Variant	rs34004794
Chromosome Location	chr15:74525585-74525586
allele	G/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	chr15:74525570-74525621	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74485403..74487595-chr15:74523951..74526382,2	K562	blood:
2	chr15:74525463..74526963-chr17:41465876..41467879,2	K562	blood:
3	chr15:74516668..74519200-chr15:74524275..74526738,2	MCF-7	breast:
4	chr15:74519618..74521200-chr15:74525359..74527344,2	K562	blood:

Variant related genes	Relation type
CCDC33	TF binding region
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11630924	0.81[AMR][1000 genomes]
rs11631509	0.81[AMR][1000 genomes]
rs11639369	0.81[AMR][1000 genomes]
rs12911581	0.81[AMR][1000 genomes]
rs12912258	0.81[AMR][1000 genomes]
rs34147822	0.81[AMR][1000 genomes]
rs34573746	0.81[AMR][1000 genomes]
rs34985083	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62003660	0.81[AMR][1000 genomes]
rs62003661	0.81[AMR][1000 genomes]
rs733163	0.81[AMR][1000 genomes]
rs971755	0.81[AMR][1000 genomes]
rs971756	0.81[AMR][1000 genomes]
rs971757	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv904349	chr15:74500105-74542686	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv904350	chr15:74500105-74548773	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74521400-74526400	Weak transcription	Stomach Mucosa	stomach
2	chr15:74521400-74528400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:74521600-74526800	Weak transcription	Colonic Mucosa	Colon
4	chr15:74522400-74525800	Weak transcription	Fetal Brain Female	brain
5	chr15:74522600-74525600	Weak transcription	Fetal Brain Male	brain
6	chr15:74522600-74526400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:74523400-74526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:74523600-74526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:74525000-74527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:74525200-74525600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:74525200-74527000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:74525200-74527000	Weak transcription	Right Atrium	heart
13	chr15:74525200-74527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:74525400-74525600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr15:74525400-74525600	Enhancers	Gastric	stomach
16	chr15:74525400-74526600	Enhancers	Fetal Lung	lung
17	chr15:74525400-74526800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:74525400-74527200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:74525400-74527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:74525400-74527600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr15:74525400-74528000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr15:74525400-74528600	Enhancers	Fetal Thymus	thymus

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