Variant report

Variant	rs10915962
Chromosome Location	chr1:226411317-226411318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

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	MYBL2	chr1:226410756-226411531	HepG2	liver:	n/a	n/a
4	BHLHE40	chr1:226410854-226411899	HepG2	liver:	n/a	chr1:226411233-226411249
5	HNF4G	chr1:226410762-226411678	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
6	POLR2A	chr1:226411145-226411969	GM19099	blood:	n/a	n/a
7	ZBTB7A	chr1:226411189-226411686	K562	blood:	n/a	n/a
8	POLR2A	chr1:226411099-226411507	HepG2	liver:	n/a	n/a
9	HNF4A	chr1:226410720-226411809	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
10	FOXA1	chr1:226410618-226411426	HepG2	liver:	n/a	n/a
11	CTCF	chr1:226411220-226411370	GM12873	blood:	n/a	n/a
12	HDAC2	chr1:226410805-226411411	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr1:226411177-226411863	ECC-1	luminal epithelium:	n/a	n/a
14	YY1	chr1:226410868-226411945	HepG2	liver:	n/a	chr1:226411079-226411090 chr1:226411233-226411247 chr1:226411059-226411073
15	CEBPD	chr1:226410801-226411448	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:226410847-226411832	HepG2	liver:	n/a	n/a
17	HNF4A	chr1:226410766-226411359	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
18	POLR2A	chr1:226411143-226411492	HepG2	liver:	n/a	n/a
19	CTCF	chr1:226411225-226411947	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr1:226411260-226411410	GM12871	blood:	n/a	n/a
21	ELF1	chr1:226410991-226411395	HepG2	liver:	n/a	chr1:226411206-226411215 chr1:226411234-226411246
22	MAX	chr1:226410747-226412033	HepG2	liver:	n/a	n/a
23	GABPA	chr1:226411172-226411992	H1-hESC	embryonic stem cell:	n/a	n/a
24	RXRA	chr1:226410652-226411344	HepG2	liver:	n/a	n/a
25	HEY1	chr1:226410797-226411996	HepG2	liver:	n/a	chr1:226411236-226411251 chr1:226411132-226411147
26	POLR2A	chr1:226410856-226411970	HepG2	liver:	n/a	n/a
27	EP300	chr1:226410827-226411415	HepG2	liver:	n/a	n/a
28	EP300	chr1:226410615-226411476	HepG2	liver:	n/a	n/a
29	TBP	chr1:226410862-226411514	HepG2	liver:	n/a	n/a
30	TCF7L2	chr1:226411179-226411543	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr1:226410916-226411896	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:226411188-226411526	HepG2	liver:	n/a	n/a
33	MAZ	chr1:226410846-226411661	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr1:226411009-226411916	ECC-1	luminal epithelium:	n/a	n/a
35	ZBTB7A	chr1:226410694-226411343	HepG2	liver:	n/a	n/a
36	MXI1	chr1:226410804-226411945	HepG2	liver:	n/a	n/a
37	MAX	chr1:226411257-226411424	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	ZBTB7A	chr1:226410971-226411407	HepG2	liver:	n/a	n/a
40	HEY1	chr1:226411278-226411531	HepG2	liver:	n/a	n/a
41	HDAC2	chr1:226410755-226411784	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:226411132-226411529	HepG2	liver:	n/a	n/a
43	CREB1	chr1:226411119-226411365	A549	lung:	n/a	n/a
44	BACH1	chr1:226411172-226411387	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226411270-226411320	GM12878	blood:	n/a
2	chr1:226411270-226411320	AG09309	skin:	n/a
3	chr1:226411270-226411320	HEEpiC	esophagus:	n/a
4	chr1:226411270-226411320	ECC-1	luminal epithelium:	n/a
5	chr1:226411270-226411320	HMEC	breast:	n/a
6	chr1:226411270-226411320	AG10803	skin:	n/a
7	chr1:226411270-226411320	HRE	kidney:	n/a
8	chr1:226411270-226411320	ovcar-3	ovarian:	n/a
9	chr1:226411270-226411320	HIPEpiC	eye:	n/a
10	chr1:226411270-226411320	GM19239	blood:	n/a
11	chr1:226411270-226411320	AG04449	skin:	fetal
12	chr1:226411270-226411320	ProgFib	skin:	n/a
13	chr1:226411270-226411320	HRCEpiC	kidney:	n/a
14	chr1:226411270-226411320	H1-hESC	embryonic stem cell:	embryo
15	chr1:226411270-226411320	GM12892	blood:	n/a
16	chr1:226411270-226411320	AoSMC	blood vessel:	n/a
17	chr1:226411270-226411320	MCF-7	breast:	n/a
18	chr1:226411270-226411320	GM06990	blood:	n/a
19	chr1:226411270-226411320	SK-N-MC	brain:	n/a
20	chr1:226411270-226411320	HUVEC	blood vessel:	n/a
21	chr1:226411270-226411320	NHDF-neo	bronchial:	n/a
22	chr1:226411270-226411320	BE2_C	brain:	n/a
23	chr1:226411270-226411320	Caco-2	colon:	n/a
24	chr1:226411270-226411320	HEK293	kidney:	embryo
25	chr1:226411270-226411320	HRPEpiC	eye:	n/a
26	chr1:226411270-226411320	Hepatocyte	liver:	n/a
27	chr1:226411270-226411320	HCPEpiC	choroid plexus:	n/a
28	chr1:226411270-226411320	SKMC	muscle:	n/a
29	chr1:226411270-226411320	NHBE	bronchial:	n/a
30	chr1:226411270-226411320	AG04450	lung:	fetal
31	chr1:226411270-226411320	IMR90	lung:	fetal
32	chr1:226411270-226411320	HCM	heart:	n/a
33	chr1:226411270-226411320	RPTEC	kidney:	n/a
34	chr1:226411270-226411320	U87	brain:	n/a
35	chr1:226411270-226411320	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:226411270-226411320	CMK	blood:	n/a
37	chr1:226411270-226411320	SK-N-SH	brain:	n/a
38	chr1:226411270-226411320	PrEC	prostate:	n/a
39	chr1:226411270-226411320	MCF10A-Er-Src	breast:	n/a
40	chr1:226411270-226411320	HAEpiC	amniotic membrane:	n/a
41	chr1:226411270-226411320	HL-60	blood:	n/a
42	chr1:226411270-226411320	T-47D	breast:	n/a
43	chr1:226411270-226411320	Jurkat	blood:	n/a
44	chr1:226411270-226411320	BJ	skin:	n/a
45	chr1:226411270-226411320	PFSK-1	brain:	n/a
46	chr1:226411270-226411320	HCT-116	colon:	n/a
47	chr1:226411270-226411320	HCF	heart:	n/a
48	chr1:226411270-226411320	NB4	blood:	n/a
49	chr1:226411270-226411320	SK-N-SH_RA	brain:	n/a
50	chr1:226411270-226411320	PANC-1	pancreas:	n/a

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10127753	0.81[EUR][1000 genomes]
rs10127776	0.81[EUR][1000 genomes]
rs10127970	0.81[EUR][1000 genomes]
rs10753416	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799341	0.85[EUR][1000 genomes]
rs10799344	0.81[EUR][1000 genomes]
rs10799347	0.81[EUR][1000 genomes]
rs10915964	0.81[EUR][1000 genomes]
rs1219658	0.91[EUR][1000 genomes]
rs2126573	0.82[EUR][1000 genomes]
rs2169567	0.90[EUR][1000 genomes]
rs2377026	0.84[EUR][1000 genomes]
rs2377028	0.90[EUR][1000 genomes]
rs2377029	0.91[EUR][1000 genomes]
rs2615799	0.92[EUR][1000 genomes]
rs2889537	0.85[EUR][1000 genomes]
rs2927338	0.88[EUR][1000 genomes]
rs6605032	0.89[EUR][1000 genomes]
rs7552015	0.81[EUR][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10915962	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

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	chr1:226410800-226411400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
6	chr1:226410800-226411600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:226410800-226411600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr1:226410800-226411800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226410800-226411800	Enhancers	Fetal Heart	heart
10	chr1:226410800-226412000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:226410800-226412000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:226410800-226412000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:226410800-226412200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:226410800-226412200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:226410800-226412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:226410800-226412400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:226410800-226412400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:226410800-226412400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr1:226410800-226412800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:226411000-226411400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
23	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr1:226411000-226411400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr1:226411000-226411400	Active TSS	Right Ventricle	heart
29	chr1:226411000-226411600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226411000-226411600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:226411000-226411600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:226411000-226411600	Active TSS	Psoas Muscle	Psoas
33	chr1:226411000-226411600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
34	chr1:226411000-226411800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr1:226411000-226411800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:226411000-226411800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:226411000-226411800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:226411000-226411800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr1:226411000-226411800	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
42	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr1:226411000-226411800	Active TSS	Ovary	ovary
44	chr1:226411000-226411800	Bivalent/Poised TSS	NHLF	lung
45	chr1:226411000-226412000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:226411000-226412000	Active TSS	Aorta	Aorta
47	chr1:226411000-226412000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:226411000-226412000	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:226411000-226412200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:226411000-226412200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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