Variant report

Variant	rs7147670
Chromosome Location	chr14:77670048-77670049
allele	A/G
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	MXI1	chr14:77669821-77670978	SK-N-SH	brain:	n/a	chr14:77670475-77670490

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77669395..77671250-chr14:77783516..77785944,2	MCF-7	breast:
2	chr14:77669292..77670874-chr14:77786731..77788343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201384	TF binding region
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11159252	1.00[ASN][1000 genomes]
rs11620648	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621596	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627977	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11628257	1.00[ASN][1000 genomes]
rs11629219	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2542824	0.89[EUR][1000 genomes]
rs421146	0.91[EUR][1000 genomes]
rs60803895	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990332	1.00[ASN][1000 genomes]
rs61991597	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144771	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009449	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011512	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017343	1.00[ASN][1000 genomes]
rs8018063	1.00[ASN][1000 genomes]
rs8018183	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77654600-77679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:77662000-77674400	Weak transcription	Brain Substantia Nigra	brain
4	chr14:77662800-77671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:77666000-77670200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:77667400-77670400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:77667800-77671200	Enhancers	Fetal Brain Male	brain
8	chr14:77668600-77671000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:77669800-77670200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:77669800-77670400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:77669800-77670800	Enhancers	Brain Anterior Caudate	brain
12	chr14:77669800-77670800	Enhancers	Brain Hippocampus Middle	brain
13	chr14:77669800-77670800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:77669800-77671000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:77669800-77671000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:77669800-77671000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:77669800-77671200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:77669800-77671200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:77669800-77671200	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:77669800-77671200	Enhancers	Fetal Brain Female	brain
21	chr14:77670000-77670400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:77670000-77670400	Enhancers	Lung	lung
23	chr14:77670000-77670600	Enhancers	Brain Angular Gyrus	brain
24	chr14:77670000-77670800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:77670000-77670800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:77670000-77670800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr14:77670000-77671000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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