Variant report

Variant	rs9819628
Chromosome Location	chr3:20140837-20140838
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	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10084714	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052930	1.00[JPT][hapmap]
rs1061636	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124376	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs11712709	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12488369	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488589	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490215	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17006610	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17006623	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17797343	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1995722	1.00[JPT][hapmap]
rs28716666	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34159701	1.00[ASN][1000 genomes]
rs3828352	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852067	1.00[JPT][hapmap]
rs41285057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364184	1.00[JPT][hapmap]
rs4417886	0.97[EUR][1000 genomes]
rs4858158	1.00[JPT][hapmap]
rs56042248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117426	0.83[EUR][1000 genomes]
rs61138004	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61457790	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62241674	1.00[ASN][1000 genomes]
rs62241698	1.00[ASN][1000 genomes]
rs62243080	0.83[EUR][1000 genomes]
rs62243081	0.83[EUR][1000 genomes]
rs62243098	0.98[EUR][1000 genomes]
rs62243100	0.98[EUR][1000 genomes]
rs62243131	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6550307	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6550339	0.81[EUR][1000 genomes]
rs6550340	0.81[EUR][1000 genomes]
rs6550374	1.00[JPT][hapmap]
rs6550402	1.00[JPT][hapmap]
rs67660889	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767049	1.00[JPT][hapmap]
rs67713322	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771367	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771941	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773807	1.00[JPT][hapmap]
rs6774367	1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777450	1.00[JPT][hapmap]
rs6791385	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6793304	1.00[JPT][hapmap]
rs6793985	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6807771	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7619317	1.00[JPT][hapmap]
rs7628915	1.00[JPT][hapmap]
rs7639282	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9310613	1.00[JPT][hapmap]
rs970589	1.00[JPT][hapmap]
rs9819739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828701	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836418	0.83[EUR][1000 genomes]
rs9852109	1.00[ASN][1000 genomes]
rs9855900	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857135	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	esv1827700	chr3:20119716-20489086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	esv1830036	chr3:20121828-20278275	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1830599	chr3:20121828-20375643	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv3719	chr3:20133243-20150202	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1828816	chr3:20136508-20389045	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9819628	KAT2B	cis	parietal	SCAN
rs9819628	KAT2B	cis	cerebellum	SCAN
rs9819628	PCAF	cis	multi-tissue	Pritchard

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20123000-20153000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:20123200-20141000	Weak transcription	Stomach Mucosa	stomach
4	chr3:20123200-20153200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:20128200-20175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:20131800-20153000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:20132800-20152400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:20134600-20143200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:20134600-20145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:20134800-20143000	Strong transcription	Primary B cells from cord blood	blood
11	chr3:20135200-20145800	Weak transcription	Fetal Brain Female	brain
12	chr3:20135200-20173800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:20135800-20141200	Strong transcription	Thymus	Thymus
14	chr3:20136000-20141200	Weak transcription	Fetal Brain Male	brain
15	chr3:20136200-20145400	Strong transcription	Fetal Thymus	thymus
16	chr3:20136400-20143200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:20136600-20143800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:20136800-20143200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:20137000-20150000	Weak transcription	K562	blood
20	chr3:20137200-20141000	Strong transcription	Fetal Stomach	stomach
21	chr3:20137400-20156600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:20137600-20153000	Weak transcription	Spleen	Spleen
23	chr3:20137800-20141400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:20137800-20142600	Weak transcription	Adipose Nuclei	Adipose
25	chr3:20137800-20145200	Weak transcription	GM12878-XiMat	blood
26	chr3:20137800-20150200	Weak transcription	Lung	lung
27	chr3:20137800-20150200	Weak transcription	Right Ventricle	heart
28	chr3:20137800-20153000	Weak transcription	Esophagus	oesophagus
29	chr3:20137800-20153000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:20137800-20153200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:20138000-20142400	Weak transcription	Left Ventricle	heart
32	chr3:20138000-20145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:20138000-20145600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:20138000-20150400	Weak transcription	Fetal Intestine Large	intestine
35	chr3:20138000-20152800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:20138000-20153000	Weak transcription	Aorta	Aorta
37	chr3:20138000-20153000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:20138800-20141000	Weak transcription	Ovary	ovary
39	chr3:20138800-20148000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:20138800-20152600	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:20138800-20156400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:20139000-20152800	Weak transcription	Liver	Liver
43	chr3:20139000-20152800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:20139000-20164000	Weak transcription	Small Intestine	intestine
45	chr3:20139600-20141000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:20139600-20141200	Strong transcription	Fetal Lung	lung
47	chr3:20139600-20141400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:20139800-20147400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:20139800-20161000	Weak transcription	Fetal Intestine Small	intestine
50	chr3:20140200-20141200	Enhancers	Brain Germinal Matrix	brain

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