Variant report

Variant	rs591810
Chromosome Location	chr9:33447424-33447425
allele	C/G
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	MXI1	chr9:33446697-33447453	K562	blood:	n/a	n/a
2	UBTF	chr9:33446679-33447710	K562	blood:	n/a	n/a
3	CTCF	chr9:33447412-33447649	GM19238	blood:	n/a	n/a
4	CTCF	chr9:33447420-33447570	GM12872	blood:	n/a	n/a
5	RAD21	chr9:33447380-33447656	IMR90	lung:	n/a	n/a
6	ZNF143	chr9:33447413-33447716	GM12878	blood:	n/a	n/a
7	CTCF	chr9:33447420-33447570	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr9:33447383-33447664	A549	lung:	n/a	n/a
9	TBP	chr9:33447039-33447755	K562	blood:	n/a	n/a
10	SP1	chr9:33446864-33447634	A549	lung:	n/a	chr9:33447076-33447086 chr9:33447035-33447044 chr9:33447028-33447042 chr9:33447029-33447038 chr9:33447027-33447039 chr9:33447027-33447039 chr9:33447081-33447095
11	ZBTB7A	chr9:33446915-33448040	ECC-1	luminal epithelium:	n/a	chr9:33447693-33447702
12	NANOG	chr9:33447410-33447628	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr9:33447309-33447559	K562	blood:	n/a	n/a
14	CTCF	chr9:33447420-33447570	HPAF	blood vessel:	n/a	n/a
15	HDAC2	chr9:33447168-33447598	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:33445820-33447651	PBDE	blood:	n/a	n/a
17	RCOR1	chr9:33447182-33447599	HepG2	liver:	n/a	n/a
18	CTCF	chr9:33447400-33447550	AG09309	skin:	n/a	n/a
19	TBP	chr9:33447403-33447771	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr9:33447281-33447791	MCF-7	breast:	n/a	n/a
21	JUN	chr9:33446947-33447690	K562	blood:	n/a	chr9:33447148-33447158 chr9:33447148-33447158 chr9:33447149-33447157 chr9:33447148-33447158
22	CTCF	chr9:33447407-33447670	GM19239	blood:	n/a	n/a
23	RCOR1	chr9:33445420-33447966	K562	blood:	n/a	n/a
24	POLR2A	chr9:33447388-33447660	GM12878	blood:	n/a	n/a
25	E2F6	chr9:33447358-33447708	K562	blood:	n/a	chr9:33447692-33447701
26	ZNF143	chr9:33447057-33447500	K562	blood:	n/a	n/a
27	CTCF	chr9:33447219-33447844	K562	blood:	n/a	n/a
28	MAX	chr9:33446619-33448550	HepG2	liver:	n/a	chr9:33446892-33446902 chr9:33446787-33446798 chr9:33448169-33448180
29	CTCF	chr9:33447357-33447669	HepG2	liver:	n/a	n/a
30	JUND	chr9:33447168-33448020	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:33447400-33447550	HEK293	kidney:	n/a	n/a
32	NR2F2	chr9:33446819-33447593	K562	blood:	n/a	n/a
33	FOSL2	chr9:33446798-33447524	HepG2	liver:	n/a	chr9:33447148-33447158 chr9:33447148-33447158 chr9:33447149-33447157 chr9:33447148-33447158
34	POLR2A	chr9:33446640-33447511	K562	blood:	n/a	n/a
35	CTCF	chr9:33447404-33447664	GM12891	blood:	n/a	n/a
36	CTCF	chr9:33447360-33447650	RPTEC	kidney:	n/a	n/a
37	CTCF	chr9:33447400-33447550	NHLF	lung:	n/a	n/a
38	CTCF	chr9:33446494-33448196	A549	lung:	n/a	n/a
39	EP300	chr9:33446628-33447552	K562	blood:	n/a	n/a
40	MYC	chr9:33446556-33447622	K562	blood:	n/a	chr9:33446892-33446902 chr9:33446787-33446798
41	MAX	chr9:33446488-33448545	K562	blood:	n/a	chr9:33446892-33446902 chr9:33446787-33446798 chr9:33448169-33448180
42	UBTF	chr9:33447130-33447709	K562	blood:	n/a	n/a
43	MAX	chr9:33447003-33447713	A549	lung:	n/a	n/a
44	CHD2	chr9:33447349-33447569	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr9:33447241-33447885	H1-hESC	embryonic stem cell:	n/a	chr9:33447744-33447762
46	MXI1	chr9:33446820-33447623	HepG2	liver:	n/a	n/a
47	CTCF	chr9:33447421-33447674	A549	lung:	n/a	n/a
48	CTCF	chr9:33447420-33447570	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:33447012-33447760	K562	blood:	n/a	n/a
50	CTCF	chr9:33447384-33447763	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:33262875..33266717-chr9:33442401..33447759,7	MCF-7	breast:
2	chr9:33445821..33447609-chr9:33472349..33474000,2	MCF-7	breast:
3	chr9:33289115..33292246-chr9:33446804..33450002,3	MCF-7	breast:
4	chr9:33445766..33447768-chr9:33448192..33450842,2	K562	blood:

Variant related genes	Relation type
AQP3	TF binding region
ENSG00000270542	TF binding region
ENSG00000086102	Chromatin interaction
ENSG00000086065	Chromatin interaction
ENSG00000107262	Chromatin interaction
ENSG00000270542	Chromatin interaction
ENSG00000165271	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2777753	0.87[CEU][hapmap]
rs2992817	0.87[CEU][hapmap]
rs517210	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1024571	chr9:33380148-33468682	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	esv1846775	chr9:33380722-33464665	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1015928	chr9:33386067-33468682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv893018	chr9:33408019-33451136	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv466380	chr9:33434931-33453638	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv614147	chr9:33434931-33453638	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv516500	chr9:33434931-33466859	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	nsv893019	chr9:33436563-33449952	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv893020	chr9:33441826-33449952	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv614148	chr9:33442986-33447553	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv893021	chr9:33442986-33449952	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv893022	chr9:33444076-33447579	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv893023	chr9:33444076-33447824	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv893024	chr9:33444861-33449952	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv614149	chr9:33445716-33447824	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv893025	chr9:33445716-33449952	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33444800-33447800	Enhancers	Stomach Mucosa	stomach
2	chr9:33445000-33448000	Flanking Active TSS	Placenta	Placenta
3	chr9:33445000-33448200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:33445200-33448400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr9:33445200-33448400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr9:33445200-33448400	Flanking Active TSS	NHEK	skin
7	chr9:33445200-33448600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:33445400-33447600	Active TSS	Lung	lung
9	chr9:33445400-33448000	Flanking Active TSS	Pancreas	Pancrea
10	chr9:33445400-33448200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:33445400-33448400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:33445400-33448400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr9:33445400-33448400	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr9:33445600-33448400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr9:33445800-33448200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:33445800-33448600	Flanking Active TSS	Dnd41	blood
17	chr9:33446200-33447800	Enhancers	Primary B cells from cord blood	blood
18	chr9:33446200-33448000	Active TSS	Rectal Smooth Muscle	rectum
19	chr9:33446200-33448200	Active TSS	Thymus	Thymus
20	chr9:33446400-33447600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr9:33446400-33447600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr9:33446400-33448000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr9:33446400-33448000	Active TSS	Gastric	stomach
24	chr9:33446400-33448200	Active TSS	Colon Smooth Muscle	Colon
25	chr9:33446400-33448400	Enhancers	Fetal Heart	heart
26	chr9:33446400-33448400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr9:33446600-33447600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr9:33446600-33447800	Active TSS	Right Atrium	heart
29	chr9:33446600-33447800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:33446600-33448200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr9:33446800-33447600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:33446800-33447600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:33446800-33447800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:33446800-33447800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:33446800-33447800	Active TSS	Liver	Liver
36	chr9:33446800-33448000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr9:33446800-33448000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:33446800-33448000	Active TSS	Fetal Kidney	kidney
39	chr9:33446800-33448200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr9:33446800-33448200	Flanking Active TSS	HMEC	breast
41	chr9:33446800-33448400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:33446800-33448400	Flanking Active TSS	GM12878-XiMat	blood
43	chr9:33447000-33447600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr9:33447000-33447600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr9:33447000-33447600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr9:33447000-33447600	Active TSS	Small Intestine	intestine
47	chr9:33447000-33447600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr9:33447000-33447600	Flanking Active TSS	NH-A	brain
49	chr9:33447000-33447800	Enhancers	Primary hematopoietic stem cells	blood
50	chr9:33447000-33447800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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