Variant report

Variant	rs3802335
Chromosome Location	chr9:19126476-19126477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:19125987..19127822-chr9:19460752..19462438,2	MCF-7	breast:
2	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
3	chr9:19125652..19127211-chr9:19148540..19150962,2	K562	blood:
4	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
5	chr9:19047624..19049710-chr9:19124952..19127835,2	MCF-7	breast:
6	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
7	chr9:19047688..19050062-chr9:19125989..19129041,3	K562	blood:

Variant related genes	Relation type
ENSG00000155876	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000231909	Chromatin interaction
ENSG00000147872	Chromatin interaction
ENSG00000147874	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10963911	0.82[JPT][hapmap]
rs2291503	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7032119	0.83[ASN][1000 genomes]
rs7042382	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs7847408	0.83[ASN][1000 genomes]
rs9298798	0.86[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	nsv8423	chr9:19125975-19128690	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv2757322	chr9:19126476-19161145	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2759676	chr9:19126476-19161145	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3802335	PLIN2	cis	lymphoblastoid	seeQTL
rs3802335	ADFP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19116400-19127000	Weak transcription	Stomach Mucosa	stomach
2	chr9:19117000-19127000	Weak transcription	HSMMtube	muscle
3	chr9:19118000-19126600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:19118400-19126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:19120600-19126600	Weak transcription	Fetal Brain Female	brain
6	chr9:19121200-19127000	Weak transcription	Brain Angular Gyrus	brain
7	chr9:19121400-19127000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:19121600-19126600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:19121800-19127000	Weak transcription	Aorta	Aorta
10	chr9:19123000-19127000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr9:19123600-19126600	Weak transcription	Fetal Lung	lung
12	chr9:19123600-19126600	Weak transcription	A549	lung
13	chr9:19123600-19126600	Weak transcription	HSMM	muscle
14	chr9:19123600-19126800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:19123800-19126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:19124000-19126600	Transcr. at gene 5' and 3'	Liver	Liver
17	chr9:19124400-19127200	Weak transcription	HMEC	breast
18	chr9:19124800-19126600	Weak transcription	Small Intestine	intestine
19	chr9:19125000-19126600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:19125000-19126600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:19125200-19126800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
22	chr9:19125200-19126800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr9:19125600-19129000	Active TSS	Right Atrium	heart
24	chr9:19125800-19126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:19126000-19126600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
26	chr9:19126000-19126600	Enhancers	Fetal Heart	heart
27	chr9:19126000-19126800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:19126000-19126800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
29	chr9:19126000-19126800	Flanking Active TSS	GM12878-XiMat	blood
30	chr9:19126000-19127000	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:19126000-19127000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:19126000-19129200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:19126000-19129200	Active TSS	Colonic Mucosa	Colon
34	chr9:19126200-19126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:19126200-19126600	Enhancers	Primary B cells from cord blood	blood
36	chr9:19126200-19126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr9:19126200-19126600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:19126200-19126600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
39	chr9:19126200-19126600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr9:19126200-19126800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr9:19126200-19126800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr9:19126200-19126800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr9:19126200-19126800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:19126200-19126800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
45	chr9:19126200-19126800	Enhancers	Spleen	Spleen
46	chr9:19126200-19126800	Flanking Active TSS	HUVEC	blood vessel
47	chr9:19126200-19126800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr9:19126200-19127200	Bivalent/Poised TSS	HepG2	liver
49	chr9:19126200-19127800	Active TSS	Pancreas	Pancrea
50	chr9:19126200-19128200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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