Variant report

Variant	rs932375
Chromosome Location	chr1:209848696-209848697
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	MAX	chr1:209848418-209849484	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:209848491-209849056	U87	brain:	n/a	n/a
3	POLR2A	chr1:209848491-209849062	U87	brain:	n/a	n/a
4	CUX1	chr1:209848155-209848803	K562	blood:	n/a	n/a
5	E2F6	chr1:209848296-209848785	A549	lung:	n/a	n/a
6	YY1	chr1:209848170-209848727	H1-hESC	embryonic stem cell:	n/a	chr1:209848423-209848435 chr1:209848424-209848446
7	POLR2A	chr1:209848536-209849025	HUVEC	blood vessel:	n/a	n/a
8	TEAD4	chr1:209848338-209848923	ECC-1	luminal epithelium:	n/a	n/a
9	CTBP2	chr1:209848410-209849491	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:209848446-209848931	GM12878	blood:	n/a	n/a
11	TBP	chr1:209848543-209848808	K562	blood:	n/a	n/a
12	ZNF263	chr1:209848369-209848712	HEK293-T-REx	kidney:	n/a	n/a
13	MAX	chr1:209848334-209849646	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr1:209848125-209849142	ECC-1	luminal epithelium:	n/a	chr1:209848979-209848989
15	JUN	chr1:209845877-209850984	K562	blood:	n/a	chr1:209846829-209846839 chr1:209846830-209846838 chr1:209850154-209850163 chr1:209846657-209846666 chr1:209846828-209846840 chr1:209850457-209850468 chr1:209847133-209847144
16	ZC3H11A	chr1:209848405-209848869	K562	blood:	n/a	n/a
17	BHLHE40	chr1:209848397-209848773	GM12878	blood:	n/a	n/a
18	UBTF	chr1:209848162-209849482	K562	blood:	n/a	n/a
19	MYC	chr1:209848350-209849184	K562	blood:	n/a	n/a
20	STAT1	chr1:209848614-209848837	GM12878	blood:	n/a	n/a
21	MAX	chr1:209848105-209849737	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr1:209848314-209848858	A549	lung:	n/a	n/a
23	MAFK	chr1:209848215-209849006	K562	blood:	n/a	chr1:209848342-209848357
24	MAZ	chr1:209848445-209848862	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:209848644-209848942	A549	lung:	n/a	n/a
26	SPI1	chr1:209848568-209848716	K562	blood:	n/a	n/a
27	POLR2A	chr1:209845589-209851436	K562	blood:	n/a	n/a
28	POLR2A	chr1:209848601-209848901	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr1:209848587-209848966	U87	brain:	n/a	n/a
30	MAX	chr1:209848257-209849079	ECC-1	luminal epithelium:	n/a	n/a
31	ESR1	chr1:209848307-209849002	ECC-1	luminal epithelium:	n/a	chr1:209848364-209848381
32	MAX	chr1:209848319-209848799	K562	blood:	n/a	n/a
33	RCOR1	chr1:209847926-209849163	K562	blood:	n/a	n/a
34	EP300	chr1:209848095-209849538	ECC-1	luminal epithelium:	n/a	chr1:209848789-209848805
35	ZNF384	chr1:209848297-209849023	K562	blood:	n/a	n/a
36	CCNT2	chr1:209848313-209849504	K562	blood:	n/a	n/a
37	TBP	chr1:209848673-209848866	GM12878	blood:	n/a	n/a
38	BHLHE40	chr1:209848177-209849684	K562	blood:	n/a	chr1:209848854-209848870
39	MAZ	chr1:209846271-209849643	K562	blood:	n/a	chr1:209846852-209846861 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846851-209846860
40	TEAD4	chr1:209848048-209848848	K562	blood:	n/a	n/a
41	MAX	chr1:209848047-209849006	ECC-1	luminal epithelium:	n/a	n/a
42	ZMIZ1	chr1:209848045-209849180	K562	blood:	n/a	n/a
43	NFIC	chr1:209848255-209849176	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr1:209848312-209849037	K562	blood:	n/a	chr1:209848789-209848805
45	MAX	chr1:209848357-209849616	SK-N-SH	brain:	n/a	n/a
46	MAX	chr1:209848423-209848888	GM12878	blood:	n/a	n/a
47	TBP	chr1:209848645-209849095	H1-hESC	embryonic stem cell:	n/a	n/a
48	TCF12	chr1:209848193-209849150	ECC-1	luminal epithelium:	n/a	chr1:209848979-209848989
49	POLR2A	chr1:209848517-209849014	SK-N-SH	brain:	n/a	n/a
50	MYC	chr1:209846187-209850023	K562	blood:	n/a	chr1:209846852-209846861 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846851-209846860

Variant related genes	Relation type
ENSG00000227591	TF binding region
G0S2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4393158	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844487	0.80[ASN][1000 genomes]
rs6540547	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6694238	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs846910	0.83[EUR][1000 genomes]
rs860184	0.89[ASN][1000 genomes]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3350621	chr1:209848656-209849030	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209846400-209848800	Enhancers	Spleen	Spleen
2	chr1:209847000-209850000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr1:209847200-209848800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:209847400-209850000	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:209847400-209850600	Flanking Active TSS	Liver	Liver
6	chr1:209847600-209849200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
7	chr1:209847600-209849600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:209847600-209850000	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:209847800-209849400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:209847800-209850200	Active TSS	Psoas Muscle	Psoas
11	chr1:209848000-209849000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:209848000-209849400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:209848000-209849400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:209848000-209849600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:209848000-209849600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:209848000-209849800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:209848000-209849800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:209848200-209848800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:209848200-209848800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:209848200-209849000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr1:209848200-209849000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
22	chr1:209848200-209849000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:209848200-209849000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr1:209848200-209849000	Active TSS	Fetal Lung	lung
25	chr1:209848200-209849200	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr1:209848200-209849400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:209848200-209849400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:209848200-209849400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
29	chr1:209848200-209849400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr1:209848200-209849400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:209848200-209849400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:209848200-209849400	Active TSS	Fetal Kidney	kidney
33	chr1:209848200-209849400	Flanking Active TSS	Stomach Mucosa	stomach
34	chr1:209848200-209849400	Bivalent/Poised TSS	A549	lung
35	chr1:209848200-209849400	Flanking Active TSS	HMEC	breast
36	chr1:209848200-209849600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:209848200-209849600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:209848200-209849600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:209848200-209849600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr1:209848200-209849600	Flanking Active TSS	Ovary	ovary
41	chr1:209848200-209849600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:209848200-209849800	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:209848200-209849800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr1:209848400-209848800	Bivalent Enhancer	Primary B cells from cord blood	blood
45	chr1:209848400-209848800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:209848400-209848800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr1:209848400-209848800	Bivalent Enhancer	Fetal Brain Male	brain
48	chr1:209848400-209848800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr1:209848400-209848800	Active TSS	HSMM	muscle
50	chr1:209848400-209848800	Flanking Active TSS	Osteobl	bone

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