Variant report

Variant	rs17771976
Chromosome Location	chr4:7994184-7994185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7804324..7807098-chr4:7992889..7994621,2	MCF-7	breast:
2	chr4:7993971..7996546-chr4:8010581..8013516,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10213406	1.00[CHB][hapmap]
rs13130459	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133269	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17179948	0.94[EUR][1000 genomes]
rs17180102	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs34195013	0.88[EUR][1000 genomes]
rs34225157	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34336913	1.00[ASN][1000 genomes]
rs35035871	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35662701	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35714487	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35725747	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71603904	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72488938	1.00[ASN][1000 genomes]
rs7665920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs7681487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7686189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7686387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7686574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv593623	chr4:7991587-8012167	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:7985400-8004800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:7986800-8011400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:7988000-7994200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:7988400-8001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:7988600-7996800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:7989800-8005800	Weak transcription	Psoas Muscle	Psoas
10	chr4:7991400-7995200	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:7991600-8006600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:7991800-7994200	Weak transcription	Fetal Stomach	stomach
13	chr4:7991800-7995200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:7992800-7994200	Weak transcription	Brain Germinal Matrix	brain
15	chr4:7992800-8006600	Weak transcription	Aorta	Aorta
16	chr4:7993000-7994200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7993000-7994600	Strong transcription	Spleen	Spleen
18	chr4:7993400-7995000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:7993600-7994200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr4:7993600-7994400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7993800-7994400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:7994000-7994400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:7994000-7995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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