Variant report

Variant	rs6983028
Chromosome Location	chr8:91800061-91800062
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	GATA3	chr8:91799937-91800515	SK-N-SH	brain:	n/a	n/a
2	REST	chr8:91799926-91800524	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91786949..91788923-chr8:91798611..91801524,2	MCF-7	breast:
2	chr8:91768271..91770851-chr8:91798909..91800794,2	MCF-7	breast:
3	chr8:91799742..91802309-chr8:91804087..91807795,3	MCF-7	breast:
4	chr8:91708540..91711261-chr8:91799440..91801904,2	MCF-7	breast:
5	chr8:91783781..91785698-chr8:91798170..91800871,2	MCF-7	breast:

Variant related genes	Relation type
NECAB1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16906664	1.00[AMR][1000 genomes]
rs2339293	1.00[AMR][1000 genomes]
rs56677119	1.00[AMR][1000 genomes]
rs58040450	1.00[AMR][1000 genomes]
rs60776028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7009745	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1034104	chr8:91723213-91847147	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539673	chr8:91723213-91847147	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91795200-91801600	Enhancers	Fetal Brain Male	brain
2	chr8:91796600-91800600	Weak transcription	Fetal Brain Female	brain
3	chr8:91796600-91800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:91797200-91803200	Enhancers	Brain Anterior Caudate	brain
5	chr8:91797400-91800200	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:91797600-91800800	Enhancers	Brain Hippocampus Middle	brain
7	chr8:91798800-91800200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:91798800-91800400	Enhancers	Fetal Lung	lung
9	chr8:91798800-91801600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:91798800-91801800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:91799000-91801000	Weak transcription	Brain Substantia Nigra	brain
12	chr8:91799000-91802800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:91799400-91801600	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:91799800-91800200	Enhancers	Brain Angular Gyrus	brain
15	chr8:91799800-91800400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:91799800-91800600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:91799800-91802000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:91799800-91802600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:91800000-91800200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:91800000-91800200	Weak transcription	HMEC	breast
21	chr8:91800000-91800400	Enhancers	HUES6 Cell Line	embryonic stem cell

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