Variant report

Variant	rs9286986
Chromosome Location	chr1:223953258-223953259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:223952793-223953464	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:223952924-223953386	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:223952494-223953807	SK-N-MC	brain:	n/a	n/a
4	MAZ	chr1:223953027-223953354	HepG2	liver:	n/a	n/a
5	FOXA2	chr1:223952896-223953312	HepG2	liver:	n/a	n/a
6	FOXA1	chr1:223952857-223953357	HepG2	liver:	n/a	n/a
7	MYC	chr1:223953059-223953343	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:223952870-223953883	HepG2	liver:	n/a	n/a
9	MYBL2	chr1:223952874-223953361	HepG2	liver:	n/a	n/a
10	JUND	chr1:223953058-223953261	K562	blood:	n/a	n/a
11	MAFF	chr1:223953133-223953331	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:223952966-223953334	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr1:223953036-223953291	HepG2	liver:	n/a	n/a
14	TEAD4	chr1:223952586-223953398	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:223952822-223953782	K562	blood:	n/a	n/a
16	TBP	chr1:223952997-223953525	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:223952622-223954429	U87	brain:	n/a	n/a
18	RCOR1	chr1:223952843-223953267	K562	blood:	n/a	n/a
19	CHD2	chr1:223953169-223953358	HepG2	liver:	n/a	n/a
20	FOXA1	chr1:223952804-223953371	HepG2	liver:	n/a	n/a
21	SP1	chr1:223952873-223953367	HepG2	liver:	n/a	chr1:223953224-223953238 chr1:223953346-223953359 chr1:223953000-223953014
22	RCOR1	chr1:223953211-223953487	HepG2	liver:	n/a	n/a
23	CEBPD	chr1:223952935-223953321	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:223953206-223953333	A549	lung:	n/a	n/a
25	BCL3	chr1:223952911-223954621	K562	blood:	n/a	n/a
26	NFIC	chr1:223952964-223953404	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:223953131-223953363	K562	blood:	n/a	n/a
28	POLR2A	chr1:223953160-223953379	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAZ	chr1:223952926-223953364	K562	blood:	n/a	n/a
30	EP300	chr1:223952839-223953619	HepG2	liver:	n/a	chr1:223953110-223953120
31	POLR2A	chr1:223952692-223953751	K562	blood:	n/a	n/a
32	POLR2A	chr1:223952537-223954431	A549	lung:	n/a	n/a
33	POLR2A	chr1:223952788-223953744	K562	blood:	n/a	n/a
34	POLR2A	chr1:223952955-223954464	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:223953134-223953427	A549	lung:	n/a	n/a
36	POLR2A	chr1:223952532-223954066	PANC-1	pancreas:	n/a	n/a
37	ZMIZ1	chr1:223952722-223953667	K562	blood:	n/a	n/a
38	MAFK	chr1:223953193-223953360	HepG2	liver:	n/a	n/a
39	EP300	chr1:223952826-223953473	HepG2	liver:	n/a	chr1:223953110-223953120
40	JUND	chr1:223952746-223953287	HepG2	liver:	n/a	n/a
41	HDAC2	chr1:223952855-223953367	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:223952747-223953919	HepG2	liver:	n/a	n/a
43	POLR2A	chr1:223950693-223954959	K562	blood:	n/a	n/a
44	POLR2A	chr1:223953254-223953608	HL-60	blood:	n/a	n/a
45	HMGN3	chr1:223953121-223953411	K562	blood:	n/a	n/a
46	MAX	chr1:223952776-223954017	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:223952628-223954429	U87	brain:	n/a	n/a
48	FOXA1	chr1:223952870-223953423	HepG2	liver:	n/a	n/a
49	MAX	chr1:223953025-223953581	HepG2	liver:	n/a	n/a
50	HNF4A	chr1:223952921-223953278	HepG2	liver:	n/a	chr1:223952963-223952971

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223948378..223951598-chr1:223951905..223956257,3	MCF-7	breast:
2	chr1:223946469..223951364-chr1:223952394..223955847,6	K562	blood:
3	chr1:223953070..223955896-chr1:224033330..224035597,3	K562	blood:
4	chr1:223944085..223948831-chr1:223951617..223954672,7	K562	blood:
5	chr1:223952715..223955634-chr1:223956735..223959686,2	MCF-7	breast:
6	chr1:223953008..223954619-chr1:223955987..223958231,2	K562	blood:

No data

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10158199	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10158508	1.00[EUR][1000 genomes]
rs10158843	1.00[EUR][1000 genomes]
rs10159010	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1153962	1.00[EUR][1000 genomes]
rs1153966	1.00[EUR][1000 genomes]
rs12025911	1.00[EUR][1000 genomes]
rs12026548	1.00[EUR][1000 genomes]
rs12027762	1.00[EUR][1000 genomes]
rs12040996	1.00[EUR][1000 genomes]
rs12047952	1.00[EUR][1000 genomes]
rs1222131	1.00[EUR][1000 genomes]
rs12239402	1.00[EUR][1000 genomes]
rs12239445	1.00[EUR][1000 genomes]
rs12239678	1.00[EUR][1000 genomes]
rs13375296	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16842078	1.00[EUR][1000 genomes]
rs16842173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842234	1.00[EUR][1000 genomes]
rs16842259	1.00[EUR][1000 genomes]
rs16842291	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16842341	1.00[EUR][1000 genomes]
rs1890119	1.00[EUR][1000 genomes]
rs2230082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370064	1.00[EUR][1000 genomes]
rs28370079	1.00[EUR][1000 genomes]
rs28370099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370157	0.83[AFR][1000 genomes]
rs28370160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370162	1.00[EUR][1000 genomes]
rs28458390	1.00[EUR][1000 genomes]
rs28684725	1.00[EUR][1000 genomes]
rs41345146	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56947789	1.00[EUR][1000 genomes]
rs57380389	1.00[EUR][1000 genomes]
rs58753599	1.00[EUR][1000 genomes]
rs59433589	1.00[EUR][1000 genomes]
rs59793743	1.00[EUR][1000 genomes]
rs59948383	1.00[EUR][1000 genomes]
rs59970447	1.00[EUR][1000 genomes]
rs73114413	1.00[EUR][1000 genomes]
rs73125398	1.00[EUR][1000 genomes]
rs73127405	1.00[EUR][1000 genomes]
rs73127411	1.00[EUR][1000 genomes]
rs73127438	1.00[EUR][1000 genomes]
rs73127450	1.00[EUR][1000 genomes]
rs747811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515215	1.00[EUR][1000 genomes]
rs9970756	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv521758	chr1:223931411-223954080	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223931200-223954800	Strong transcription	HMEC	breast
2	chr1:223931400-223954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:223936600-223954800	Strong transcription	NHEK	skin
4	chr1:223936800-223954400	Strong transcription	HSMM	muscle
5	chr1:223937000-223954400	Strong transcription	Colonic Mucosa	Colon
6	chr1:223937000-223954400	Strong transcription	Esophagus	oesophagus
7	chr1:223937000-223954400	Strong transcription	Gastric	stomach
8	chr1:223937000-223954800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:223937000-223954800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:223937000-223954800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:223937000-223954800	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:223937000-223954800	Strong transcription	NHDF-Ad	bronchial
13	chr1:223937000-223954800	Strong transcription	Osteobl	bone
14	chr1:223937000-223957200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:223937000-223959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:223937000-223960000	Weak transcription	Thymus	Thymus
17	chr1:223937200-223954800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:223937200-223954800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:223937200-223954800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:223937200-223954800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:223937200-223958400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:223937200-223958400	Weak transcription	Fetal Heart	heart
23	chr1:223937400-223954400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:223937400-223954400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:223937400-223954400	Strong transcription	NHLF	lung
26	chr1:223937400-223954800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:223937400-223954800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:223937400-223954800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:223937400-223954800	Strong transcription	Fetal Stomach	stomach
30	chr1:223937400-223954800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:223937400-223954800	Strong transcription	A549	lung
32	chr1:223937600-223954200	Strong transcription	Left Ventricle	heart
33	chr1:223937600-223954800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:223937800-223954800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:223937800-223954800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:223938000-223954200	Strong transcription	Rectal Smooth Muscle	rectum
37	chr1:223938000-223954800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:223938000-223954800	Strong transcription	Fetal Brain Female	brain
39	chr1:223938200-223954200	Strong transcription	Brain Germinal Matrix	brain
40	chr1:223938200-223954400	Strong transcription	Ovary	ovary
41	chr1:223938200-223954400	Strong transcription	Spleen	Spleen
42	chr1:223938200-223954800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:223938200-223954800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:223938600-223956600	Weak transcription	Fetal Kidney	kidney
45	chr1:223939800-223956600	Weak transcription	Fetal Thymus	thymus
46	chr1:223940800-223954200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:223940800-223954800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:223940800-223955000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:223941000-223953400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:223941000-223954800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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