Variant report

Variant	rs818686
Chromosome Location	chr9:116160220-116160221
allele	A/C
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	CEBPB	chr9:116160113-116160758	IMR90	lung:	n/a	n/a
2	CEBPB	chr9:116160182-116160740	K562	blood:	n/a	n/a
3	POLR2A	chr9:116158874-116160883	PBDE	blood:	n/a	n/a
4	GATA1	chr9:116159099-116161726	PBDE	blood:	n/a	chr9:116159753-116159762

No.	Distal block	Cell Line	Cell type
1	chr9:116111218..116114895-chr9:116159419..116161993,4	MCF-7	breast:
2	chr9:116151263..116154918-chr9:116155923..116160670,6	K562	blood:
3	chr9:116156284..116160950-chr9:116161266..116165857,7	MCF-7	breast:
4	chr9:116129674..116142040-chr9:116159218..116175468,34	MCF-7	breast:

Variant related genes	Relation type
ALAD	TF binding region
ENSG00000119411	Chromatin interaction
ENSG00000148218	Chromatin interaction
ENSG00000119431	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1771220	1.00[CHB][hapmap]
rs7875727	0.81[GIH][hapmap]
rs818682	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818684	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818685	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818687	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818689	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs818690	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818693	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs818686	ALAD	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116127800-116160400	Weak transcription	Fetal Heart	heart
2	chr9:116139800-116160400	Weak transcription	NHDF-Ad	bronchial
3	chr9:116139800-116161400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr9:116139800-116161400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:116139800-116162000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr9:116140000-116162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:116144600-116162600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:116146600-116162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:116149800-116160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:116150200-116161200	Weak transcription	Fetal Brain Male	brain
11	chr9:116151600-116160400	Weak transcription	Hela-S3	cervix
12	chr9:116151600-116162400	Weak transcription	Psoas Muscle	Psoas
13	chr9:116151800-116162600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:116152000-116162200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr9:116153000-116161600	Weak transcription	GM12878-XiMat	blood
16	chr9:116153400-116162400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:116153400-116162400	Weak transcription	A549	lung
18	chr9:116153600-116162600	Weak transcription	Fetal Kidney	kidney
19	chr9:116153800-116162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:116154000-116161800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:116154000-116162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:116154000-116162600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr9:116154000-116163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:116154000-116163000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:116154600-116162200	Weak transcription	Spleen	Spleen
26	chr9:116154800-116161400	Weak transcription	Fetal Brain Female	brain
27	chr9:116155000-116160400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:116155000-116161000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:116155000-116161600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr9:116155000-116161600	Weak transcription	Fetal Thymus	thymus
31	chr9:116155000-116162600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:116155600-116162000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:116155600-116162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:116155600-116162600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:116155800-116162400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:116156000-116160400	Weak transcription	Fetal Lung	lung
37	chr9:116156000-116160400	Weak transcription	NHEK	skin
38	chr9:116156000-116160400	Weak transcription	NHLF	lung
39	chr9:116156000-116160600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr9:116156000-116160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:116156000-116161000	Weak transcription	Esophagus	oesophagus
42	chr9:116156000-116161400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:116156000-116161400	Weak transcription	Brain Anterior Caudate	brain
44	chr9:116156000-116161600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:116156000-116161600	Weak transcription	Right Ventricle	heart
46	chr9:116156000-116161800	Weak transcription	Dnd41	blood
47	chr9:116156000-116162200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:116156000-116162200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:116156000-116162400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:116156000-116162400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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