Variant report

Variant	rs6992432
Chromosome Location	chr8:9409982-9409983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:9409924-9410246	HepG2	liver:	n/a	n/a
2	SPI1	chr8:9409662-9410030	HL-60	blood:	n/a	n/a
3	SPI1	chr8:9409610-9410004	GM12891	blood:	n/a	n/a
4	MTA3	chr8:9409521-9410086	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:9409809-9410205	HepG2	liver:	n/a	chr8:9410014-9410023 chr8:9409996-9410007 chr8:9410012-9410023
6	ARID3A	chr8:9409901-9410066	HepG2	liver:	n/a	n/a
7	BCL11A	chr8:9409688-9409991	GM12878	blood:	n/a	n/a
8	EP300	chr8:9409842-9410192	HepG2	liver:	n/a	chr8:9410057-9410067 chr8:9409967-9409974
9	SPI1	chr8:9409372-9410258	GM12878	blood:	n/a	n/a
10	CEBPB	chr8:9409913-9410079	HepG2	liver:	n/a	chr8:9410014-9410023 chr8:9409996-9410007 chr8:9410012-9410023
11	RUNX3	chr8:9409508-9410131	GM12878	blood:	n/a	n/a
12	CTCF	chr8:9409960-9410110	GM12872	blood:	n/a	n/a
13	SPI1	chr8:9409585-9410137	HL-60	blood:	n/a	n/a
14	RUNX3	chr8:9409511-9410058	GM12878	blood:	n/a	n/a
15	JUN	chr8:9408075-9410039	K562	blood:	n/a	chr8:9408739-9408749 chr8:9408551-9408560
16	EP300	chr8:9409789-9410230	HepG2	liver:	n/a	chr8:9410057-9410067 chr8:9409806-9409820 chr8:9409967-9409974
17	SPI1	chr8:9409634-9409991	GM12878	blood:	n/a	n/a
18	NFIC	chr8:9409583-9410054	GM12878	blood:	n/a	n/a
19	CEBPB	chr8:9409918-9410139	IMR90	lung:	n/a	chr8:9410014-9410023 chr8:9409996-9410007 chr8:9410012-9410023
20	SPI1	chr8:9409559-9410055	GM12891	blood:	n/a	n/a
21	FOXA1	chr8:9409828-9410333	HepG2	liver:	n/a	n/a
22	FOXA1	chr8:9409921-9410321	HepG2	liver:	n/a	n/a
23	MEF2C	chr8:9409582-9410074	GM12878	blood:	n/a	chr8:9409810-9409818 chr8:9409771-9409782
24	MAX	chr8:9409668-9410075	NB4	blood:	n/a	n/a
25	MYC	chr8:9409670-9410067	NB4	blood:	n/a	n/a
26	CEBPB	chr8:9409835-9410124	HepG2	liver:	n/a	chr8:9410014-9410023 chr8:9409996-9410007 chr8:9410012-9410023
27	MEF2A	chr8:9409546-9410041	GM12878	blood:	n/a	chr8:9409810-9409818 chr8:9409771-9409782
28	JUND	chr8:9409910-9410161	HepG2	liver:	n/a	n/a
29	FOXA1	chr8:9409817-9410348	HepG2	liver:	n/a	n/a
30	TCF7L2	chr8:9409916-9410174	HepG2	liver:	n/a	chr8:9409939-9409953
31	FOXA2	chr8:9409854-9410288	HepG2	liver:	n/a	n/a
32	EP300	chr8:9409700-9409996	GM12878	blood:	n/a	chr8:9409806-9409820 chr8:9409967-9409974

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9408610..9410364-chr8:9497260..9500179,3	K562	blood:
2	chr8:9408610..9410129-chr8:9497260..9499270,2	K562	blood:

Variant related genes	Relation type
TNKS	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10093972	0.81[GIH][hapmap]
rs11984920	0.84[GIH][hapmap]
rs12234999	0.88[GIH][hapmap]
rs4319098	0.84[GIH][hapmap]
rs4383973	0.84[GIH][hapmap]
rs4474027	0.84[GIH][hapmap]
rs4629869	0.84[GIH][hapmap]
rs6422356	0.82[GIH][hapmap]
rs6990116	0.88[GIH][hapmap]
rs7846023	0.88[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9404000-9412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:9404800-9412800	Weak transcription	Right Atrium	heart
3	chr8:9407800-9412200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:9408400-9410000	Enhancers	K562	blood
5	chr8:9408600-9410400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:9408800-9410200	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:9409000-9412200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:9409200-9410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:9409200-9410200	Enhancers	Osteobl	bone
10	chr8:9409200-9410400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:9409200-9410400	Enhancers	GM12878-XiMat	blood
12	chr8:9409400-9410000	Enhancers	Primary B cells from cord blood	blood
13	chr8:9409400-9410000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:9409400-9410400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:9409400-9411800	Enhancers	HepG2	liver
16	chr8:9409400-9412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:9409600-9410000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr8:9409600-9410200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:9409800-9410000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:9409800-9410000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:9409800-9410000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:9409800-9410000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:9409800-9410000	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:9409800-9410200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:9409800-9410400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:9409800-9411000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:9409800-9412600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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