Variant report

Variant	rs9464297
Chromosome Location	chr6:55739746-55739747
allele	A/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	chr6:55739628-55740562	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr6:55739682-55740423	MCF-7	breast:	n/a	n/a
3	BRCA1	chr6:55739739-55739767	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:55739680-55740781	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:55739002-55740595	PANC-1	pancreas:	n/a	n/a
6	RCOR1	chr6:55739196-55739803	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
BMP5	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9475438	0.91[AFR][1000 genomes]
rs9475455	0.91[AFR][1000 genomes]
rs9475461	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1032684	chr6:55680473-55766876	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55733600-55740800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:55733600-55740800	Active TSS	Fetal Muscle Leg	muscle
3	chr6:55734200-55740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:55734200-55740600	Active TSS	Fetal Lung	lung
5	chr6:55734600-55740600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:55734600-55741600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:55734800-55740000	Weak transcription	A549	lung
8	chr6:55735000-55740400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:55735600-55740400	Active TSS	Fetal Intestine Large	intestine
10	chr6:55736200-55740400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:55736400-55740200	Active TSS	Fetal Stomach	stomach
12	chr6:55736400-55740400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:55736400-55740400	Active TSS	Placenta	Placenta
14	chr6:55736600-55740200	Active TSS	Duodenum Mucosa	Duodenum
15	chr6:55738800-55740200	ZNF genes & repeats	Fetal Brain Male	brain
16	chr6:55739000-55740000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr6:55739000-55740000	ZNF genes & repeats	Fetal Heart	heart
18	chr6:55739000-55740200	Active TSS	Fetal Kidney	kidney
19	chr6:55739000-55740400	Active TSS	Fetal Intestine Small	intestine
20	chr6:55739000-55740400	Active TSS	Fetal Muscle Trunk	muscle
21	chr6:55739000-55740400	Active TSS	Psoas Muscle	Psoas
22	chr6:55739000-55740400	Active TSS	Right Ventricle	heart
23	chr6:55739000-55740400	Active TSS	Hela-S3	cervix
24	chr6:55739200-55740200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:55739200-55740800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:55739400-55739800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:55739400-55740000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:55739400-55740400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:55739600-55740000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:55739600-55740000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:55739600-55740000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:55739600-55740400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:55739600-55740400	Active TSS	Left Ventricle	heart
34	chr6:55739600-55741200	Weak transcription	Right Atrium	heart
35	chr6:55739600-55742600	Weak transcription	H1 Cell Line	embryonic stem cell

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