Variant report

Variant	rs2229536
Chromosome Location	chr9:19116543-19116544
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	chr9:19115262..19117243-chr9:19122204..19125901,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11787990	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11788588	1.00[AMR][1000 genomes]
rs11788977	0.83[AMR][1000 genomes]
rs11789049	1.00[YRI][hapmap]
rs11789469	1.00[AMR][1000 genomes]
rs11790182	1.00[AMR][1000 genomes]
rs11791226	1.00[AMR][1000 genomes]
rs11791674	1.00[AMR][1000 genomes]
rs11791698	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11792026	1.00[YRI][hapmap]
rs11793228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11793687	1.00[AMR][1000 genomes]
rs11795205	1.00[AMR][1000 genomes]
rs11795374	1.00[AMR][1000 genomes]
rs16937266	0.81[TSI][hapmap]
rs35004770	1.00[AMR][1000 genomes]
rs35568725	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41269003	1.00[AMR][1000 genomes]
rs41269015	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41303687	1.00[AMR][1000 genomes]
rs41316035	1.00[AMR][1000 genomes]
rs56310265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67330394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696445	0.83[AMR][1000 genomes]
rs72696446	0.83[AMR][1000 genomes]
rs72696447	0.83[AMR][1000 genomes]
rs72696449	0.83[AMR][1000 genomes]
rs72696450	1.00[AMR][1000 genomes]
rs72696453	1.00[AMR][1000 genomes]
rs72696455	1.00[AMR][1000 genomes]
rs72696456	1.00[AMR][1000 genomes]
rs72696458	1.00[AMR][1000 genomes]
rs72696459	1.00[AMR][1000 genomes]
rs72696462	0.83[AMR][1000 genomes]
rs72696463	1.00[AMR][1000 genomes]
rs72696465	1.00[AMR][1000 genomes]
rs72696469	0.83[AMR][1000 genomes]
rs72696470	1.00[AMR][1000 genomes]
rs72696479	1.00[AMR][1000 genomes]
rs72696480	1.00[AMR][1000 genomes]
rs72696481	1.00[AMR][1000 genomes]
rs72696482	1.00[AMR][1000 genomes]
rs72696485	1.00[AMR][1000 genomes]
rs72696487	1.00[AMR][1000 genomes]
rs72696488	1.00[AMR][1000 genomes]
rs72696489	1.00[AMR][1000 genomes]
rs72696491	1.00[AMR][1000 genomes]
rs72696494	1.00[AMR][1000 genomes]
rs72696499	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72696500	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72696501	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72696502	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72698303	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72698305	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72698306	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72698310	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72698311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72698312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698318	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7874465	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2229536	ADFP	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19103400-19120200	Weak transcription	Pancreas	Pancrea
2	chr9:19103400-19126400	Weak transcription	Fetal Brain Male	brain
3	chr9:19103600-19118000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:19103600-19121000	Weak transcription	Right Atrium	heart
5	chr9:19110600-19126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:19112000-19122800	Strong transcription	Primary T cells from cord blood	blood
7	chr9:19113200-19118200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:19113200-19119800	Weak transcription	Brain Angular Gyrus	brain
9	chr9:19113400-19122400	Enhancers	Hela-S3	cervix
10	chr9:19113400-19124400	Strong transcription	Fetal Stomach	stomach
11	chr9:19113400-19126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:19113800-19118800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:19113800-19119400	Strong transcription	Fetal Intestine Small	intestine
14	chr9:19113800-19124200	Strong transcription	Fetal Muscle Leg	muscle
15	chr9:19114000-19121600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:19114000-19122000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:19114000-19122400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:19114000-19122800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr9:19114000-19123000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr9:19114000-19123000	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr9:19114000-19124200	Strong transcription	Fetal Intestine Large	intestine
22	chr9:19114000-19124800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:19114000-19126000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr9:19114200-19118800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:19114200-19121200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:19114200-19122400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:19114200-19124200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:19114200-19124800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:19114200-19126200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:19114400-19116600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr9:19114400-19117400	Genic enhancers	Liver	Liver
32	chr9:19114400-19120400	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr9:19114400-19123200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr9:19114400-19124000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:19114400-19124000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:19114600-19120200	Genic enhancers	Osteobl	bone
37	chr9:19114600-19121400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:19114600-19122200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr9:19114600-19123600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr9:19114600-19123600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr9:19114600-19123600	Strong transcription	Spleen	Spleen
42	chr9:19114800-19116800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:19114800-19117000	Strong transcription	GM12878-XiMat	blood
44	chr9:19114800-19121200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr9:19114800-19121200	Genic enhancers	NHDF-Ad	bronchial
46	chr9:19114800-19121400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:19114800-19123400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr9:19114800-19123600	Strong transcription	Brain Substantia Nigra	brain
49	chr9:19114800-19123600	Strong transcription	Fetal Thymus	thymus
50	chr9:19114800-19124800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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