Variant report

Variant	rs6703596
Chromosome Location	chr1:46859681-46859682
allele	A/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	chr1:46859667-46860323	A549	lung:	n/a	n/a
2	MAX	chr1:46859202-46860598	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:46859640-46860707	HepG2	liver:	n/a	n/a
4	HA-E2F1	chr1:46859461-46860543	MCF-7	breast:	n/a	chr1:46859951-46859960 chr1:46859817-46859832
5	ZEB1	chr1:46859622-46860701	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:46858796-46860516	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr1:46859020-46860404	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF7	chr1:46859657-46860155	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:46859664-46860250	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:46859673-46860503	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr1:46859644-46860474	HepG2	liver:	n/a	n/a
12	SP1	chr1:46859564-46860562	HCT-116	colon:	n/a	chr1:46859893-46859902 chr1:46859892-46859906 chr1:46859892-46859901 chr1:46859892-46859901
13	SP1	chr1:46859660-46860095	A549	lung:	n/a	chr1:46859893-46859902 chr1:46859892-46859906 chr1:46859892-46859901 chr1:46859892-46859901
14	MAX	chr1:46859583-46860680	HCT-116	colon:	n/a	n/a
15	SIN3AK20	chr1:46859592-46860575	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:46858370-46860721	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr1:46859642-46860162	A549	lung:	n/a	chr1:46859951-46859960 chr1:46859817-46859832
18	POLR2A	chr1:46859671-46860267	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr1:46858746-46860725	H1-hESC	embryonic stem cell:	n/a	chr1:46859949-46859960
20	MAX	chr1:46859667-46860171	A549	lung:	n/a	n/a
21	TBP	chr1:46859049-46860319	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr1:46859120-46860664	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr1:46859106-46860234	H1-hESC	embryonic stem cell:	n/a	chr1:46859893-46859902 chr1:46859892-46859906 chr1:46859892-46859901 chr1:46859892-46859901
24	MAX	chr1:46859609-46860665	ECC-1	luminal epithelium:	n/a	n/a
25	YY1	chr1:46859670-46860194	H1-hESC	embryonic stem cell:	n/a	chr1:46859896-46859907 chr1:46859964-46859978 chr1:46859952-46859966
26	POLR2A	chr1:46859656-46860519	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr1:46859665-46860177	MCF-7	breast:	n/a	chr1:46859934-46859948 chr1:46859822-46859831
28	POLR2A	chr1:46859674-46860438	MCF-7	breast:	n/a	n/a
29	FOXA1	chr1:46859672-46860162	HepG2	liver:	n/a	n/a
30	TCF12	chr1:46859607-46860610	ECC-1	luminal epithelium:	n/a	chr1:46859847-46859855
31	CHD1	chr1:46859471-46859986	H1-hESC	embryonic stem cell:	n/a	n/a
32	SETDB1	chr1:46858644-46860059	K562	blood:	n/a	chr1:46859968-46859977
33	TAF1	chr1:46858723-46860437	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr1:46859550-46860530	HCT-116	colon:	n/a	chr1:46859893-46859902 chr1:46859892-46859906 chr1:46859892-46859901 chr1:46859892-46859901
35	REST	chr1:46859609-46860733	H1-neurons	neurons:	n/a	chr1:46859820-46859830
36	E2F6	chr1:46858901-46860673	H1-hESC	embryonic stem cell:	n/a	chr1:46859951-46859960 chr1:46859817-46859832
37	JUND	chr1:46858926-46860106	H1-hESC	embryonic stem cell:	n/a	chr1:46859934-46859948 chr1:46859822-46859831
38	MAX	chr1:46859626-46860674	ECC-1	luminal epithelium:	n/a	n/a
39	SP1	chr1:46859167-46860074	H1-hESC	embryonic stem cell:	n/a	chr1:46859893-46859902 chr1:46859892-46859906 chr1:46859892-46859901 chr1:46859892-46859901
40	E2F6	chr1:46859152-46860441	H1-hESC	embryonic stem cell:	n/a	chr1:46859951-46859960 chr1:46859817-46859832
41	MAX	chr1:46858968-46860613	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFIC	chr1:46859628-46861413	ECC-1	luminal epithelium:	n/a	chr1:46860459-46860476
43	EGR1	chr1:46859670-46860146	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr1:46859678-46860131	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46859671-46859721	ovcar-3	ovarian:	n/a
2	chr1:46859671-46859721	HEK293	kidney:	embryo
3	chr1:46859671-46859721	K562	blood:	n/a
4	chr1:46859671-46859721	HL-60	blood:	n/a
5	chr1:46859680-46859730	HCF	heart:	n/a
6	chr1:46859680-46859730	LNCaP	prostate:	n/a
7	chr1:46859671-46859721	AG09319	gingival:	n/a
8	chr1:46859680-46859730	GM06990	blood:	n/a
9	chr1:46859680-46859730	NB4	blood:	n/a
10	chr1:46859671-46859721	A549	lung:	n/a
11	chr1:46859671-46859721	HCPEpiC	choroid plexus:	n/a
12	chr1:46859680-46859730	ECC-1	luminal epithelium:	n/a
13	chr1:46859671-46859721	ProgFib	skin:	n/a
14	chr1:46859680-46859730	A549	lung:	n/a
15	chr1:46859671-46859721	SKMC	muscle:	n/a
16	chr1:46859680-46859730	GM12891	blood:	n/a
17	chr1:46859671-46859721	CMK	blood:	n/a
18	chr1:46859680-46859730	SK-N-SH_RA	brain:	n/a
19	chr1:46859671-46859721	U87	brain:	n/a
20	chr1:46859671-46859721	AG10803	skin:	n/a
21	chr1:46859680-46859730	PrEC	prostate:	n/a
22	chr1:46859671-46859721	SAEC	small airway:	n/a
23	chr1:46859680-46859730	PFSK-1	brain:	n/a
24	chr1:46859680-46859730	IMR90	lung:	fetal
25	chr1:46859671-46859721	AG09309	skin:	n/a
26	chr1:46859680-46859730	SK-N-SH	brain:	n/a
27	chr1:46859680-46859730	HEEpiC	esophagus:	n/a
28	chr1:46859671-46859721	NT2-D1	testis:	n/a
29	chr1:46859671-46859721	Caco-2	colon:	n/a
30	chr1:46859671-46859721	HCF	heart:	n/a
31	chr1:46859671-46859721	HCT-116	colon:	n/a
32	chr1:46859671-46859721	Hepatocyte	liver:	n/a
33	chr1:46859671-46859721	HMEC	breast:	n/a
34	chr1:46859671-46859721	GM19239	blood:	n/a
35	chr1:46859671-46859721	SK-N-SH	brain:	n/a
36	chr1:46859680-46859730	SK-N-MC	brain:	n/a
37	chr1:46859680-46859730	HNPCEpiC	eye:	n/a
38	chr1:46859671-46859721	AG04450	lung:	fetal
39	chr1:46859680-46859730	K562	blood:	n/a
40	chr1:46859680-46859730	U87	brain:	n/a
41	chr1:46859680-46859730	HRPEpiC	eye:	n/a
42	chr1:46859671-46859721	IMR90	lung:	fetal
43	chr1:46859680-46859730	SAEC	small airway:	n/a
44	chr1:46859680-46859730	RPTEC	kidney:	n/a
45	chr1:46859680-46859730	HMEC	breast:	n/a
46	chr1:46859671-46859721	HRE	kidney:	n/a
47	chr1:46859680-46859730	NT2-D1	testis:	n/a
48	chr1:46859680-46859730	SKMC	muscle:	n/a
49	chr1:46859671-46859721	HAEpiC	amniotic membrane:	n/a
50	chr1:46859671-46859721	HUVEC	blood vessel:	n/a

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11211267	1.00[EUR][1000 genomes]
rs11802856	1.00[EUR][1000 genomes]
rs11804220	1.00[EUR][1000 genomes]
rs11804982	1.00[EUR][1000 genomes]
rs12086460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096333	1.00[EUR][1000 genomes]
rs35563048	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3931457	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57638901	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6678791	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46851000-46859800	Weak transcription	Ovary	ovary
2	chr1:46858200-46860000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:46858400-46859800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:46858400-46860800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:46858600-46859800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr1:46858800-46859800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:46858800-46859800	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr1:46858800-46860000	ZNF genes & repeats	Fetal Thymus	thymus
9	chr1:46859000-46859800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:46859000-46860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:46859000-46860400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:46859200-46859800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:46859200-46860000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr1:46859200-46860000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:46859200-46860200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:46859200-46860800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:46859200-46861200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:46859400-46859800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:46859400-46859800	Active TSS	Colonic Mucosa	Colon
20	chr1:46859400-46859800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr1:46859400-46860000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:46859400-46860200	Active TSS	Fetal Brain Female	brain
23	chr1:46859400-46860400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:46859400-46860400	Active TSS	Colon Smooth Muscle	Colon
25	chr1:46859400-46860400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:46859400-46860400	ZNF genes & repeats	Spleen	Spleen
27	chr1:46859400-46860400	ZNF genes & repeats	GM12878-XiMat	blood
28	chr1:46859400-46860600	Active TSS	Brain Angular Gyrus	brain
29	chr1:46859400-46861000	Active TSS	Brain Hippocampus Middle	brain
30	chr1:46859600-46859800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:46859600-46859800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:46859600-46859800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:46859600-46859800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:46859600-46859800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:46859600-46859800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:46859600-46859800	Enhancers	Adipose Nuclei	Adipose
37	chr1:46859600-46859800	Enhancers	Liver	Liver
38	chr1:46859600-46859800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr1:46859600-46859800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
40	chr1:46859600-46859800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr1:46859600-46859800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr1:46859600-46859800	Enhancers	Left Ventricle	heart
43	chr1:46859600-46859800	Enhancers	Lung	lung
44	chr1:46859600-46859800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:46859600-46859800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:46859600-46859800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:46859600-46859800	Active TSS	Stomach Smooth Muscle	stomach
48	chr1:46859600-46860000	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:46859600-46860000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:46859600-46860000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--

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