Variant report

Variant	rs6817309
Chromosome Location	chr4:8009214-8009215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8008264..8010463-chr4:8011198..8013869,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16841552	0.80[LWK][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6817309	PHYH	trans	lymphoblastoid	seeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:7986800-8011400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:7998600-8011600	Weak transcription	Fetal Brain Female	brain
4	chr4:7998800-8011800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:8000000-8011200	Strong transcription	Spleen	Spleen
6	chr4:8003400-8011400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:8003400-8012000	Weak transcription	Gastric	stomach
8	chr4:8004800-8009400	Weak transcription	Lung	lung
9	chr4:8004800-8010600	Strong transcription	Brain Cingulate Gyrus	brain
10	chr4:8004800-8010800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:8005200-8010600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:8005200-8012200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:8005800-8009400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:8006000-8010800	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr4:8006200-8010000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr4:8006600-8009600	Strong transcription	Brain Hippocampus Middle	brain
17	chr4:8006600-8011600	Weak transcription	Stomach Mucosa	stomach
18	chr4:8007200-8010000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:8007200-8018000	Weak transcription	Psoas Muscle	Psoas
20	chr4:8007400-8009600	Strong transcription	Fetal Stomach	stomach
21	chr4:8007600-8010600	Weak transcription	Brain Germinal Matrix	brain
22	chr4:8007800-8011400	Weak transcription	Pancreas	Pancrea
23	chr4:8007800-8011600	Weak transcription	Brain Anterior Caudate	brain
24	chr4:8007800-8012200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
26	chr4:8008000-8011600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:8008000-8011600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:8008400-8010000	Strong transcription	Brain Angular Gyrus	brain
29	chr4:8008600-8009600	Weak transcription	Aorta	Aorta
30	chr4:8008600-8011400	Weak transcription	Fetal Brain Male	brain
31	chr4:8008600-8012000	Weak transcription	Fetal Heart	heart
32	chr4:8008600-8012400	Weak transcription	Right Ventricle	heart
33	chr4:8008800-8009800	Strong transcription	Brain Substantia Nigra	brain
34	chr4:8009000-8012400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:8009200-8009400	Strong transcription	Adipose Nuclei	Adipose
36	chr4:8009200-8010600	Strong transcription	Left Ventricle	heart
37	chr4:8009200-8012200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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