Variant report

Variant	rs9693435
Chromosome Location	chr8:98968099-98968100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98966806..98971038-chr8:98972037..98974632,4	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11779647	0.91[CEU][hapmap];0.87[MEX][hapmap];0.83[EUR][1000 genomes]
rs2256367	0.94[MEX][hapmap]
rs2513837	0.94[MEX][hapmap]
rs2513838	0.83[MEX][hapmap]
rs2959646	0.82[MEX][hapmap]
rs55972155	0.91[EUR][1000 genomes]
rs62521939	0.87[EUR][1000 genomes]
rs62521959	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7006113	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9693435	PGCP	cis	parietal	SCAN
rs9693435	NCALD	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
3	chr8:98956600-98968800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:98956600-98973600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:98957200-98970800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:98957200-98973600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:98957800-98969200	Weak transcription	Left Ventricle	heart
8	chr8:98963400-98976000	Weak transcription	Fetal Brain Male	brain
9	chr8:98963600-98969000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:98963800-98970600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:98963800-98975200	Weak transcription	Placenta	Placenta
12	chr8:98964400-98968800	Weak transcription	Fetal Kidney	kidney
13	chr8:98964600-98970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:98964800-98968800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:98964800-98968800	Weak transcription	Pancreas	Pancrea
16	chr8:98964800-98968800	Weak transcription	Hela-S3	cervix
17	chr8:98964800-98969000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:98964800-98970800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:98964800-98976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:98965000-98968600	Weak transcription	Fetal Heart	heart
21	chr8:98965000-98968800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:98965000-98968800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:98965000-98969000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:98965000-98969200	Weak transcription	Fetal Lung	lung
25	chr8:98965000-98969400	Weak transcription	Brain Angular Gyrus	brain
26	chr8:98965000-98973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:98965000-98980200	Weak transcription	Liver	Liver
28	chr8:98965200-98969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:98965600-98968600	Weak transcription	Fetal Stomach	stomach
30	chr8:98965600-98969000	Weak transcription	Adipose Nuclei	Adipose
31	chr8:98965600-98969000	Weak transcription	NHDF-Ad	bronchial
32	chr8:98965600-98970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:98965600-98983200	Weak transcription	NHLF	lung
34	chr8:98965800-98968200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:98966600-98968800	Weak transcription	Ovary	ovary
36	chr8:98966600-98971000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:98966800-98969200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:98967000-98969200	Weak transcription	Brain Anterior Caudate	brain
39	chr8:98967800-98968200	Enhancers	Right Atrium	heart
40	chr8:98967800-98968400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr8:98968000-98968200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:98968000-98968200	Enhancers	Esophagus	oesophagus
43	chr8:98968000-98968200	Genic enhancers	Fetal Muscle Leg	muscle
44	chr8:98968000-98968200	Enhancers	Gastric	stomach
45	chr8:98968000-98968800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:98968000-98976200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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