Variant report

Variant	rs562675827
Chromosome Location	chr1:226411539-226411540
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	CTCF	chr1:226411475-226411694	K562	blood:	n/a	n/a
2	CTCF	chr1:226411494-226411777	GM19240	blood:	n/a	n/a
3	YY1	chr1:226411505-226411795	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:226410854-226411899	HepG2	liver:	n/a	chr1:226411233-226411249
5	SIN3A	chr1:226411342-226411866	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr1:226411426-226411897	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr1:226411459-226411681	HepG2	liver:	n/a	n/a
8	HNF4G	chr1:226410762-226411678	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
9	POLR2A	chr1:226411145-226411969	GM19099	blood:	n/a	n/a
10	ZBTB7A	chr1:226411189-226411686	K562	blood:	n/a	n/a
11	TCF3	chr1:226411533-226411935	GM12878	blood:	n/a	n/a
12	RAD21	chr1:226411518-226411730	HepG2	liver:	n/a	n/a
13	CTCF	chr1:226411384-226411928	H1-hESC	embryonic stem cell:	n/a	n/a
14	HNF4A	chr1:226410720-226411809	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
15	ZBTB7A	chr1:226411457-226411660	HepG2	liver:	n/a	n/a
16	CREB1	chr1:226411472-226412042	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB7A	chr1:226411177-226411863	ECC-1	luminal epithelium:	n/a	n/a
18	JUND	chr1:226411531-226411717	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr1:226410868-226411945	HepG2	liver:	n/a	chr1:226411079-226411090 chr1:226411233-226411247 chr1:226411059-226411073
20	POLR2A	chr1:226410847-226411832	HepG2	liver:	n/a	n/a
21	CTCF	chr1:226411511-226411919	GM12892	blood:	n/a	n/a
22	CREB1	chr1:226411384-226411942	H1-hESC	embryonic stem cell:	n/a	n/a
23	UBTF	chr1:226411520-226411925	K562	blood:	n/a	n/a
24	CTCF	chr1:226411435-226411805	GM19238	blood:	n/a	n/a
25	CTCF	chr1:226411225-226411947	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr1:226411416-226411982	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr1:226411469-226411731	HepG2	liver:	n/a	n/a
28	CTCF	chr1:226411431-226411950	GM19239	blood:	n/a	n/a
29	MAX	chr1:226411400-226411933	A549	lung:	n/a	n/a
30	CTCF	chr1:226411485-226411928	GM12891	blood:	n/a	n/a
31	MAX	chr1:226410747-226412033	HepG2	liver:	n/a	n/a
32	GABPA	chr1:226411172-226411992	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:226411520-226411670	AG04449	skin:	n/a	n/a
34	CTCF	chr1:226411387-226411838	K562	blood:	n/a	n/a
35	HEY1	chr1:226410797-226411996	HepG2	liver:	n/a	chr1:226411236-226411251 chr1:226411132-226411147
36	POLR2A	chr1:226410856-226411970	HepG2	liver:	n/a	n/a
37	CTCF	chr1:226411500-226411650	HA-sp	spinal cord:	n/a	n/a
38	CCNT2	chr1:226411462-226411884	K562	blood:	n/a	n/a
39	TCF7L2	chr1:226411179-226411543	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr1:226410916-226411896	HepG2	liver:	n/a	n/a
41	CTCF	chr1:226411408-226411783	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr1:226410846-226411661	HepG2	liver:	n/a	n/a
43	MAX	chr1:226411519-226411784	K562	blood:	n/a	n/a
44	TCF12	chr1:226411536-226411725	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZBTB7A	chr1:226411009-226411916	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr1:226411451-226411804	GM12878	blood:	n/a	n/a
47	CTCF	chr1:226411537-226411728	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr1:226411487-226411723	A549	lung:	n/a	n/a
49	MXI1	chr1:226410804-226411945	HepG2	liver:	n/a	n/a
50	HDAC2	chr1:226410755-226411784	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MIXL1	TF binding region

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226408800-226411600	Weak transcription	K562	blood
2	chr1:226410600-226412200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:226410600-226412400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:226410600-226412800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:226410800-226411600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:226410800-226411600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr1:226410800-226411800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:226410800-226411800	Enhancers	Fetal Heart	heart
9	chr1:226410800-226412000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:226410800-226412000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:226410800-226412000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:226410800-226412200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:226410800-226412200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:226410800-226412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:226410800-226412400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:226410800-226412400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:226410800-226412400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr1:226410800-226412800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:226411000-226411600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:226411000-226411600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:226411000-226411600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:226411000-226411600	Active TSS	Psoas Muscle	Psoas
23	chr1:226411000-226411600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
24	chr1:226411000-226411800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:226411000-226411800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:226411000-226411800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:226411000-226411800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:226411000-226411800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr1:226411000-226411800	Active TSS	Duodenum Mucosa	Duodenum
30	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr1:226411000-226411800	Active TSS	Ovary	ovary
34	chr1:226411000-226411800	Bivalent/Poised TSS	NHLF	lung
35	chr1:226411000-226412000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:226411000-226412000	Active TSS	Aorta	Aorta
37	chr1:226411000-226412000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:226411000-226412000	Active TSS	Rectal Smooth Muscle	rectum
39	chr1:226411000-226412200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr1:226411000-226412200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:226411000-226412200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:226411000-226412200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:226411000-226412200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:226411000-226412800	Active TSS	HepG2	liver
45	chr1:226411200-226411600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:226411200-226411600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:226411200-226411600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr1:226411200-226411600	Active TSS	Gastric	stomach
49	chr1:226411200-226411600	Enhancers	Pancreas	Pancrea
50	chr1:226411200-226411600	Active TSS	Sigmoid Colon	Sigmoid Colon

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