Variant report

Variant	rs73644822
Chromosome Location	chr9:14693830-14693831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr9:14693417-14693888	GM12878	blood:	n/a	n/a
2	ZNF143	chr9:14693274-14693950	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:14693197-14693948	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELK1	chr9:14693246-14693896	GM12878	blood:	n/a	n/a
5	MXI1	chr9:14692332-14694164	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr9:14692813-14693882	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr9:14692973-14693838	GM10847	blood:	n/a	n/a
8	RUNX3	chr9:14693151-14693963	GM12878	blood:	n/a	n/a
9	KAP1	chr9:14693488-14694097	HEK293	kidney:	n/a	n/a
10	ELF1	chr9:14693184-14693842	GM12878	blood:	n/a	chr9:14693352-14693365 chr9:14693354-14693363 chr9:14693353-14693362
11	POLR2A	chr9:14692734-14693981	GM18951	blood:	n/a	n/a
12	POLR2A	chr9:14692581-14693941	Raji	blood:	n/a	n/a
13	TCF12	chr9:14692958-14694016	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr9:14693094-14693863	HepG2	liver:	n/a	n/a
15	TAF1	chr9:14693168-14693846	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr9:14692474-14693873	GM12892	blood:	n/a	n/a
17	POLR2A	chr9:14693040-14693941	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr9:14693698-14693898	HepG2	liver:	n/a	n/a
19	MAFK	chr9:14693751-14693872	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr9:14693056-14693906	GM12878	blood:	n/a	n/a
21	RUNX3	chr9:14693145-14693860	GM12878	blood:	n/a	n/a
22	USF2	chr9:14693362-14693990	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:14692616-14693961	GM12892	blood:	n/a	n/a
24	POLR2A	chr9:14692623-14693971	GM18505	blood:	n/a	n/a
25	ZNF143	chr9:14692919-14693914	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:14693169-14693989	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr9:14692555-14693861	GM19099	blood:	n/a	n/a
28	TAF1	chr9:14693164-14693948	H1-neurons	neurons:	n/a	n/a
29	CTBP2	chr9:14693233-14693890	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr9:14692493-14694390	GM12878	blood:	n/a	n/a
31	MAX	chr9:14692884-14693848	ECC-1	luminal epithelium:	n/a	n/a
32	RELA	chr9:14692774-14693986	GM19099	blood:	n/a	n/a
33	MAX	chr9:14693171-14693963	HepG2	liver:	n/a	n/a
34	POLR2A	chr9:14692431-14694388	GM12891	blood:	n/a	n/a
35	TCF12	chr9:14693112-14693903	A549	lung:	n/a	n/a
36	RELA	chr9:14692541-14693922	GM18951	blood:	n/a	n/a
37	MAFK	chr9:14693715-14693898	HepG2	liver:	n/a	n/a
38	POLR2A	chr9:14693000-14693959	A549	lung:	n/a	n/a
39	CHD1	chr9:14693269-14693945	GM12878	blood:	n/a	n/a
40	ELF1	chr9:14692889-14693944	GM12878	blood:	n/a	chr9:14693352-14693365 chr9:14693354-14693363 chr9:14693353-14693362
41	POLR2A	chr9:14692719-14693933	GM19193	blood:	n/a	n/a
42	MAX	chr9:14693016-14693943	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr9:14693731-14693991	ProgFib	skin:	n/a	n/a
44	SIN3A	chr9:14693059-14693915	H1-hESC	embryonic stem cell:	n/a	chr9:14693132-14693143
45	ZEB1	chr9:14693197-14693969	GM12878	blood:	n/a	n/a
46	POLR2A	chr9:14692955-14693913	HepG2	liver:	n/a	n/a
47	CHD2	chr9:14693310-14693896	H1-hESC	embryonic stem cell:	n/a	n/a
48	RELA	chr9:14692768-14693958	GM15510	blood:	n/a	n/a
49	POLR2A	chr9:14692587-14693916	GM18526	blood:	n/a	n/a
50	POLR2A	chr9:14692922-14693955	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14685829..14688724-chr9:14693473..14695940,2	K562	blood:
2	chr9:14693520..14695525-chr9:14717829..14719510,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC21	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11999446	1.00[AMR][1000 genomes]
rs16932307	1.00[AMR][1000 genomes]
rs4571826	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56156786	1.00[AMR][1000 genomes]
rs7027783	1.00[AMR][1000 genomes]
rs7043578	1.00[AMR][1000 genomes]
rs7047746	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341892	1.00[AMR][1000 genomes]
rs73644823	1.00[AMR][1000 genomes]
rs73644827	1.00[AMR][1000 genomes]
rs7848906	1.00[AMR][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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv892612	chr9:14654900-14694302	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv892613	chr9:14657139-14694302	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv6482	chr9:14673695-14718568	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14691400-14694000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14691600-14694000	Active TSS	GM12878-XiMat	blood
3	chr9:14692200-14694200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr9:14692200-14694200	Active TSS	Stomach Smooth Muscle	stomach
5	chr9:14692400-14694000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:14692400-14694000	Active TSS	Colonic Mucosa	Colon
7	chr9:14692400-14694000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr9:14692400-14694000	Active TSS	Fetal Muscle Trunk	muscle
9	chr9:14692400-14694000	Active TSS	Ovary	ovary
10	chr9:14692400-14694000	Active TSS	Right Ventricle	heart
11	chr9:14692400-14694000	Active TSS	HSMM	muscle
12	chr9:14692400-14694200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:14692400-14694200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:14692600-14694000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr9:14692600-14694000	Active TSS	Primary T cells from cord blood	blood
16	chr9:14692600-14694000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:14692600-14694000	Active TSS	Left Ventricle	heart
18	chr9:14692600-14694000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr9:14692600-14694000	Active TSS	HSMMtube	muscle
20	chr9:14692600-14694000	Active TSS	Osteobl	bone
21	chr9:14692800-14694000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr9:14692800-14694000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:14692800-14694000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:14692800-14694000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:14692800-14694000	Active TSS	Gastric	stomach
26	chr9:14692800-14694000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr9:14692800-14694000	Active TSS	A549	lung
28	chr9:14692800-14694000	Active TSS	NH-A	brain
29	chr9:14692800-14694000	Active TSS	NHEK	skin
30	chr9:14692800-14694200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr9:14693000-14694000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:14693200-14694000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:14693400-14694000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr9:14693400-14694000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:14693400-14694000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:14693400-14694000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr9:14693400-14694000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr9:14693400-14694200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:14693600-14694000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:14693600-14694000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:14693600-14694000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:14693600-14694000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:14693600-14694000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:14693600-14694000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr9:14693600-14694000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr9:14693600-14694000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr9:14693600-14694000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:14693600-14694000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr9:14693600-14694000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr9:14693600-14694000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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