Variant report

Variant	rs12686810
Chromosome Location	chr9:19128393-19128394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:19128360-19128396	MCF-7	breast:	n/a	n/a
2	PML	chr9:19126903-19129044	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:19126961-19129115	GM18505	blood:	n/a	n/a
4	YY1	chr9:19127237-19128562	GM12878	blood:	n/a	chr9:19127360-19127374 chr9:19128323-19128335
5	MAX	chr9:19127902-19128557	MCF-7	breast:	n/a	n/a
6	CTCF	chr9:19128339-19128403	GM12891	blood:	n/a	n/a
7	TBP	chr9:19128132-19129077	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr9:19126880-19129183	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:19126680-19129198	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr9:19126981-19129114	H1-hESC	embryonic stem cell:	n/a	chr9:19127334-19127347 chr9:19128968-19128977
11	POLR2A	chr9:19128044-19128501	MCF-7	breast:	n/a	n/a
12	POLR2A	chr9:19126968-19129103	GM18951	blood:	n/a	n/a
13	POLR2A	chr9:19125907-19129263	GM12878	blood:	n/a	n/a
14	MTA3	chr9:19126913-19128692	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:19127031-19129061	GM12878	blood:	n/a	n/a
16	CHD2	chr9:19128344-19128426	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr9:19126966-19129070	GM12891	blood:	n/a	n/a
18	POLR2A	chr9:19126962-19128602	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr9:19126848-19129066	GM12878	blood:	n/a	n/a
20	CHD1	chr9:19127525-19128757	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr9:19128088-19128540	H1-hESC	embryonic stem cell:	n/a	chr9:19128323-19128335
22	MAX	chr9:19127940-19128568	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:19126893-19128591	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr9:19126753-19129342	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:19128065-19128521	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr9:19127046-19128577	HUVEC	blood vessel:	n/a	n/a
27	TAF7	chr9:19128176-19128536	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3AK20	chr9:19128328-19128772	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr9:19128331-19128526	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr9:19126936-19129100	GM19193	blood:	n/a	n/a
31	POLR2A	chr9:19126941-19129140	GM12892	blood:	n/a	n/a
32	POLR2A	chr9:19126898-19128448	GM12891	blood:	n/a	n/a
33	RUNX3	chr9:19126819-19128419	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:19127056-19128551	GM18526	blood:	n/a	n/a
35	POLR2A	chr9:19126952-19129097	GM15510	blood:	n/a	n/a
36	CTCF	chr9:19128320-19128470	GM06990	blood:	n/a	n/a
37	POLR2A	chr9:19126893-19128813	GM12892	blood:	n/a	n/a
38	MAX	chr9:19128011-19128738	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr9:19127420-19128654	H1-hESC	embryonic stem cell:	n/a	chr9:19128323-19128335
40	POLR2A	chr9:19125978-19129060	GM12878	blood:	n/a	n/a
41	CTCF	chr9:19128380-19128530	GM12873	blood:	n/a	n/a
42	YY1	chr9:19127277-19128578	GM12892	blood:	n/a	chr9:19127360-19127374 chr9:19128323-19128335
43	RCOR1	chr9:19128357-19129044	GM12878	blood:	n/a	n/a
44	POLR2A	chr9:19128090-19128527	ProgFib	skin:	n/a	n/a
45	POLR2A	chr9:19126800-19129158	GM12892	blood:	n/a	n/a
46	GATA2	chr9:19127855-19128980	SH-SY5Y	brain:	n/a	chr9:19128817-19128825
47	POLR2A	chr9:19128218-19128522	MCF-7	breast:	n/a	n/a
48	YY1	chr9:19127247-19128560	GM12878	blood:	n/a	chr9:19127360-19127374 chr9:19128323-19128335
49	POLR2A	chr9:19126978-19129039	GM19099	blood:	n/a	n/a
50	YY1	chr9:19127847-19128530	NT2-D1	testis:	n/a	chr9:19128323-19128335

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
2	chr9:19126615..19131871-chr9:19228040..19232542,7	MCF-7	breast:
3	chr9:19127609..19129220-chr9:19207374..19210036,2	MCF-7	breast:
4	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
5	chr9:19102335..19104420-chr9:19127605..19129443,2	MCF-7	breast:
6	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
7	chr9:19127602..19130118-chr9:19378923..19381565,2	MCF-7	breast:
8	chr9:19047688..19050062-chr9:19125989..19129041,3	K562	blood:
9	chr9:19101057..19103224-chr9:19126510..19128425,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLIN2	TF binding region
ENSG00000147874	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000155876	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3808660	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv892702	chr9:19126565-19298581	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12686810	ADFP	Cis_1M	lymphoblastoid	RTeQTL
rs12686810	ENSG00000147872	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19125600-19129000	Active TSS	Right Atrium	heart
2	chr9:19126000-19129200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:19126000-19129200	Active TSS	Colonic Mucosa	Colon
4	chr9:19126200-19128600	Active TSS	NHLF	lung
5	chr9:19126200-19128800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:19126200-19129000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr9:19126200-19129000	Active TSS	Brain Substantia Nigra	brain
8	chr9:19126200-19129000	Active TSS	Colon Smooth Muscle	Colon
9	chr9:19126200-19129000	Active TSS	Fetal Kidney	kidney
10	chr9:19126200-19129000	Active TSS	Psoas Muscle	Psoas
11	chr9:19126200-19129000	Active TSS	Rectal Smooth Muscle	rectum
12	chr9:19126200-19129400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr9:19126400-19128400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:19126400-19128400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:19126400-19128400	Active TSS	Gastric	stomach
16	chr9:19126400-19128600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:19126400-19128600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:19126400-19128600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:19126400-19128600	Active TSS	Brain Hippocampus Middle	brain
20	chr9:19126400-19128600	Active TSS	Esophagus	oesophagus
21	chr9:19126400-19128600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:19126400-19128600	Active TSS	NHDF-Ad	bronchial
23	chr9:19126400-19129000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:19126400-19129000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:19126400-19129000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:19126400-19129000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr9:19126400-19129000	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:19126400-19129000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr9:19126400-19129000	Active TSS	Left Ventricle	heart
30	chr9:19126400-19129000	Active TSS	Lung	lung
31	chr9:19126400-19129000	Active TSS	Ovary	ovary
32	chr9:19126400-19129000	Active TSS	Right Ventricle	heart
33	chr9:19126400-19130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr9:19126400-19130400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr9:19126600-19128400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:19126600-19128400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:19126600-19128400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:19126600-19128600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:19126600-19128600	Active TSS	A549	lung
40	chr9:19126600-19128800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr9:19126600-19128800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr9:19126600-19128800	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr9:19126600-19128800	Active TSS	HSMM	muscle
44	chr9:19126600-19129000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr9:19126600-19129000	Active TSS	Brain Cingulate Gyrus	brain
46	chr9:19126600-19129000	Active TSS	Fetal Brain Female	brain
47	chr9:19126600-19129000	Active TSS	Thymus	Thymus
48	chr9:19126600-19129200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:19126600-19129200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:19126600-19129200	Active TSS	Duodenum Smooth Muscle	Duodenum

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