Variant report

Variant	rs575257081
Chromosome Location	chr1:226411084-226411085
allele	A/C
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	CHD2	chr1:226410855-226411344	HepG2	liver:	n/a	n/a
2	RCOR1	chr1:226410813-226411424	HepG2	liver:	n/a	n/a
3	SRF	chr1:226410816-226411185	HepG2	liver:	n/a	chr1:226410972-226410990 chr1:226410974-226410987 chr1:226410975-226410992 chr1:226410972-226410986 chr1:226410976-226410990 chr1:226410970-226410988
4	ARID3A	chr1:226410737-226411118	HepG2	liver:	n/a	n/a
5	MYBL2	chr1:226410756-226411531	HepG2	liver:	n/a	n/a
6	BHLHE40	chr1:226410854-226411899	HepG2	liver:	n/a	chr1:226411233-226411249
7	NFIC	chr1:226410779-226411288	HepG2	liver:	n/a	n/a
8	SP1	chr1:226410679-226411260	HepG2	liver:	n/a	chr1:226411139-226411148 chr1:226410754-226410764 chr1:226411241-226411253 chr1:226411241-226411253 chr1:226411243-226411252 chr1:226411242-226411251 chr1:226410817-226410826 chr1:226410695-226410704
9	HNF4G	chr1:226410762-226411678	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
10	FOXA2	chr1:226410760-226411236	HepG2	liver:	n/a	n/a
11	FOXA1	chr1:226410729-226411179	HepG2	liver:	n/a	n/a
12	HNF4A	chr1:226410720-226411809	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
13	FOXA1	chr1:226410618-226411426	HepG2	liver:	n/a	n/a
14	HDAC2	chr1:226410805-226411411	HepG2	liver:	n/a	n/a
15	YY1	chr1:226410868-226411945	HepG2	liver:	n/a	chr1:226411079-226411090 chr1:226411233-226411247 chr1:226411059-226411073
16	RXRA	chr1:226410805-226411316	HepG2	liver:	n/a	n/a
17	CEBPD	chr1:226410801-226411448	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:226410847-226411832	HepG2	liver:	n/a	n/a
19	HNF4A	chr1:226410766-226411359	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
20	FOXA1	chr1:226410717-226411125	HepG2	liver:	n/a	n/a
21	ELF1	chr1:226410991-226411395	HepG2	liver:	n/a	chr1:226411206-226411215 chr1:226411234-226411246
22	CEBPB	chr1:226410732-226411150	HepG2	liver:	n/a	n/a
23	MYBL2	chr1:226410756-226411284	HepG2	liver:	n/a	n/a
24	MAX	chr1:226410747-226412033	HepG2	liver:	n/a	n/a
25	RXRA	chr1:226410652-226411344	HepG2	liver:	n/a	n/a
26	HEY1	chr1:226410797-226411996	HepG2	liver:	n/a	chr1:226411236-226411251 chr1:226411132-226411147
27	POLR2A	chr1:226410856-226411970	HepG2	liver:	n/a	n/a
28	EP300	chr1:226410827-226411415	HepG2	liver:	n/a	n/a
29	SRF	chr1:226410772-226411100	H1-hESC	embryonic stem cell:	n/a	chr1:226410972-226410990 chr1:226410974-226410987 chr1:226410975-226410992 chr1:226410972-226410986 chr1:226410976-226410990 chr1:226410970-226410988
30	EP300	chr1:226410615-226411476	HepG2	liver:	n/a	n/a
31	TBP	chr1:226410862-226411514	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:226410916-226411896	HepG2	liver:	n/a	n/a
33	FOXA1	chr1:226410749-226411160	HepG2	liver:	n/a	n/a
34	MAZ	chr1:226410846-226411661	HepG2	liver:	n/a	n/a
35	ZBTB7A	chr1:226411009-226411916	ECC-1	luminal epithelium:	n/a	n/a
36	ZBTB7A	chr1:226410694-226411343	HepG2	liver:	n/a	n/a
37	MXI1	chr1:226410804-226411945	HepG2	liver:	n/a	n/a
38	HNF4A	chr1:226410730-226411365	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
39	TEAD4	chr1:226410619-226411158	HepG2	liver:	n/a	chr1:226410780-226410789
40	HNF4G	chr1:226410719-226411304	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
41	ZBTB7A	chr1:226410971-226411407	HepG2	liver:	n/a	n/a
42	HDAC2	chr1:226410755-226411784	HepG2	liver:	n/a	n/a
43	SRF	chr1:226410793-226411133	HepG2	liver:	n/a	chr1:226410972-226410990 chr1:226410974-226410987 chr1:226410975-226410992 chr1:226410972-226410986 chr1:226410976-226410990 chr1:226410970-226410988

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226411057-226411107	HCM	heart:	n/a
2	chr1:226411070-226411120	AoSMC	blood vessel:	n/a
3	chr1:226411057-226411107	GM06990	blood:	n/a
4	chr1:226411070-226411120	AG09309	skin:	n/a
5	chr1:226411070-226411120	AG10803	skin:	n/a
6	chr1:226411057-226411107	Hepatocyte	liver:	n/a
7	chr1:226411070-226411120	NHDF-neo	bronchial:	n/a
8	chr1:226411057-226411107	ovcar-3	ovarian:	n/a
9	chr1:226411057-226411107	AG09319	gingival:	n/a
10	chr1:226411070-226411120	SAEC	small airway:	n/a
11	chr1:226411070-226411120	K562	blood:	n/a
12	chr1:226411057-226411107	HCPEpiC	choroid plexus:	n/a
13	chr1:226411070-226411120	A549	lung:	n/a
14	chr1:226411070-226411120	ProgFib	skin:	n/a
15	chr1:226411057-226411107	MCF10A-Er-Src	breast:	n/a
16	chr1:226411070-226411120	HRCEpiC	kidney:	n/a
17	chr1:226411057-226411107	HIPEpiC	eye:	n/a
18	chr1:226411057-226411107	T-47D	breast:	n/a
19	chr1:226411057-226411107	K562	blood:	n/a
20	chr1:226411057-226411107	SAEC	small airway:	n/a
21	chr1:226411070-226411120	ovcar-3	ovarian:	n/a
22	chr1:226411070-226411120	GM06990	blood:	n/a
23	chr1:226411057-226411107	BE2_C	brain:	n/a
24	chr1:226411070-226411120	Caco-2	colon:	n/a
25	chr1:226411070-226411120	NH-A	brain:	n/a
26	chr1:226411070-226411120	GM19239	blood:	n/a
27	chr1:226411070-226411120	HRE	kidney:	n/a
28	chr1:226411057-226411107	SK-N-MC	brain:	n/a
29	chr1:226411057-226411107	GM19239	blood:	n/a
30	chr1:226411070-226411120	Hela-S3	cervix:	n/a
31	chr1:226411070-226411120	BJ	skin:	n/a
32	chr1:226411057-226411107	GM12878	blood:	n/a
33	chr1:226411070-226411120	ECC-1	luminal epithelium:	n/a
34	chr1:226411070-226411120	SKMC	muscle:	n/a
35	chr1:226411070-226411120	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:226411057-226411107	H1-hESC	embryonic stem cell:	embryo
37	chr1:226411057-226411107	HMEC	breast:	n/a
38	chr1:226411070-226411120	H1-hESC	embryonic stem cell:	embryo
39	chr1:226411070-226411120	MCF-7	breast:	n/a
40	chr1:226411070-226411120	HNPCEpiC	eye:	n/a
41	chr1:226411057-226411107	GM12892	blood:	n/a
42	chr1:226411057-226411107	PANC-1	pancreas:	n/a
43	chr1:226411070-226411120	HRPEpiC	eye:	n/a
44	chr1:226411057-226411107	MCF-7	breast:	n/a
45	chr1:226411070-226411120	CMK	blood:	n/a
46	chr1:226411057-226411107	Caco-2	colon:	n/a
47	chr1:226411057-226411107	HNPCEpiC	eye:	n/a
48	chr1:226411070-226411120	HEEpiC	esophagus:	n/a
49	chr1:226411057-226411107	SK-N-SH	brain:	n/a
50	chr1:226411057-226411107	U87	brain:	n/a

Variant related genes	Relation type
MIXL1	TF binding region
MIXL1	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3425958	chr1:226410154-226412702	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226399000-226411200	Weak transcription	Gastric	stomach
2	chr1:226408800-226411600	Weak transcription	K562	blood
3	chr1:226410600-226411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:226410600-226412200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:226410600-226412400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:226410600-226412800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:226410800-226411200	Active TSS	Primary hematopoietic stem cells	blood
8	chr1:226410800-226411200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
9	chr1:226410800-226411200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:226410800-226411200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:226410800-226411200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:226410800-226411200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
13	chr1:226410800-226411200	Bivalent Enhancer	Placenta	Placenta
14	chr1:226410800-226411200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr1:226410800-226411200	Enhancers	GM12878-XiMat	blood
16	chr1:226410800-226411400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr1:226410800-226411600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:226410800-226411600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr1:226410800-226411800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:226410800-226411800	Enhancers	Fetal Heart	heart
21	chr1:226410800-226412000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:226410800-226412000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:226410800-226412000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:226410800-226412200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:226410800-226412200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:226410800-226412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:226410800-226412400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:226410800-226412400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:226410800-226412400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr1:226410800-226412800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:226411000-226411200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:226411000-226411200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr1:226411000-226411200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr1:226411000-226411200	Enhancers	Primary B cells from cord blood	blood
35	chr1:226411000-226411200	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:226411000-226411200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr1:226411000-226411200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:226411000-226411200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:226411000-226411200	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr1:226411000-226411200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr1:226411000-226411200	Enhancers	Esophagus	oesophagus
42	chr1:226411000-226411200	Bivalent Enhancer	Fetal Thymus	thymus
43	chr1:226411000-226411200	Active TSS	Left Ventricle	heart
44	chr1:226411000-226411200	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
45	chr1:226411000-226411200	Active TSS	Right Atrium	heart
46	chr1:226411000-226411200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr1:226411000-226411200	Bivalent/Poised TSS	Thymus	Thymus
48	chr1:226411000-226411200	Active TSS	HUVEC	blood vessel
49	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:226411000-226411400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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