Variant report

Variant	rs9644969
Chromosome Location	chr9:96348923-96348924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96347503..96349844-chr9:96352338..96353951,2	K562	blood:
2	chr9:96346772..96349327-chr9:96380904..96383527,2	MCF-7	breast:
3	chr9:96347655..96349520-chr9:96399670..96402056,2	K562	blood:
4	chr9:96331225..96334018-chr9:96347470..96349122,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1000850	0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000851	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122092	0.82[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1041500	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821170	0.85[CHD][hapmap]
rs10992796	0.83[CHD][hapmap]
rs17533702	0.85[CHD][hapmap]
rs2026942	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254712	0.85[CHD][hapmap]
rs2994369	0.85[CHD][hapmap]
rs2994370	0.85[CHD][hapmap]
rs35094322	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744255	0.85[CHD][hapmap]
rs7027975	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9644969	FAM120AOS	cis	parietal	SCAN
rs9644969	AEBP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96340400-96351200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:96340600-96351600	Weak transcription	Thymus	Thymus
3	chr9:96341200-96351200	Weak transcription	NHDF-Ad	bronchial
4	chr9:96341400-96350200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:96341400-96356000	Weak transcription	Hela-S3	cervix
6	chr9:96341600-96351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:96341600-96359600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:96341800-96362200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr9:96342200-96359600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:96342600-96357800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:96343400-96360600	Weak transcription	Dnd41	blood
12	chr9:96343600-96350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:96343800-96349200	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:96344800-96349000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:96344800-96356400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:96345000-96349800	Weak transcription	Placenta	Placenta
17	chr9:96345000-96350000	Weak transcription	K562	blood
18	chr9:96345000-96351200	Weak transcription	Adipose Nuclei	Adipose
19	chr9:96345000-96351400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:96345000-96355000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:96345000-96356400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:96345000-96362600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:96345200-96350400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:96345200-96351200	Weak transcription	Fetal Lung	lung
25	chr9:96345400-96351200	Weak transcription	HSMMtube	muscle
26	chr9:96345400-96351400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:96345600-96350000	Weak transcription	Stomach Mucosa	stomach
28	chr9:96345600-96351600	Weak transcription	Fetal Intestine Large	intestine
29	chr9:96345600-96351800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr9:96347400-96349200	Enhancers	Esophagus	oesophagus
31	chr9:96347400-96352200	Enhancers	Psoas Muscle	Psoas
32	chr9:96347400-96353800	Enhancers	Ovary	ovary
33	chr9:96347400-96355400	Enhancers	Pancreas	Pancrea
34	chr9:96347400-96359000	Enhancers	Left Ventricle	heart
35	chr9:96347600-96349400	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr9:96347600-96351600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:96347600-96352800	Enhancers	Gastric	stomach
38	chr9:96347600-96353000	Enhancers	Lung	lung
39	chr9:96347600-96353600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr9:96347600-96355200	Enhancers	Right Atrium	heart
41	chr9:96347600-96355600	Enhancers	Right Ventricle	heart
42	chr9:96347600-96356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:96347600-96360600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:96347800-96349000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:96347800-96349000	Enhancers	Fetal Muscle Leg	muscle
46	chr9:96347800-96349200	Enhancers	Fetal Heart	heart
47	chr9:96347800-96349200	Strong transcription	Fetal Intestine Small	intestine
48	chr9:96347800-96349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr9:96347800-96350000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr9:96347800-96350200	Enhancers	Brain Cingulate Gyrus	brain

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