Variant report

Variant	rs2494514
Chromosome Location	chr1:159796701-159796702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr1:159796118-159796820	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:159796258-159796740	GM12878	blood:	n/a	n/a
3	RELA	chr1:159796235-159796712	GM18505	blood:	n/a	chr1:159796587-159796596 chr1:159796587-159796596
4	MYC	chr1:159796224-159796789	NB4	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455
5	BATF	chr1:159796333-159796703	GM12878	blood:	n/a	chr1:159796555-159796566 chr1:159796556-159796566
6	RUNX3	chr1:159795920-159796764	GM12878	blood:	n/a	n/a
7	IKZF1	chr1:159796259-159796710	GM12878	blood:	n/a	n/a
8	MAX	chr1:159796037-159796753	NB4	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455
9	RELA	chr1:159796255-159796742	GM12891	blood:	n/a	chr1:159796587-159796596 chr1:159796587-159796596
10	MAX	chr1:159796244-159796718	GM12878	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159796658-159796708	HRCEpiC	kidney:	n/a
2	chr1:159796658-159796708	AG04449	skin:	fetal
3	chr1:159796658-159796708	CMK	blood:	n/a
4	chr1:159796658-159796708	ProgFib	skin:	n/a
5	chr1:159796658-159796708	MCF10A-Er-Src	breast:	n/a
6	chr1:159796658-159796708	H1-hESC	embryonic stem cell:	embryo
7	chr1:159796658-159796708	HUVEC	blood vessel:	n/a
8	chr1:159796658-159796708	ECC-1	luminal epithelium:	n/a
9	chr1:159796658-159796708	HEEpiC	esophagus:	n/a
10	chr1:159796658-159796708	HCPEpiC	choroid plexus:	n/a
11	chr1:159796658-159796708	HepG2	liver:	n/a
12	chr1:159796658-159796708	BE2_C	brain:	n/a
13	chr1:159796658-159796708	SAEC	small airway:	n/a
14	chr1:159796658-159796708	NB4	blood:	n/a
15	chr1:159796658-159796708	T-47D	breast:	n/a
16	chr1:159796658-159796708	HMEC	breast:	n/a
17	chr1:159796658-159796708	GM12892	blood:	n/a
18	chr1:159796658-159796708	GM06990	blood:	n/a
19	chr1:159796658-159796708	BJ	skin:	n/a
20	chr1:159796658-159796708	SKMC	muscle:	n/a
21	chr1:159796658-159796708	SK-N-SH_RA	brain:	n/a
22	chr1:159796658-159796708	IMR90	lung:	fetal
23	chr1:159796658-159796708	NH-A	brain:	n/a
24	chr1:159796658-159796708	AG09319	gingival:	n/a
25	chr1:159796658-159796708	MCF-7	breast:	n/a
26	chr1:159796658-159796708	Hepatocyte	liver:	n/a
27	chr1:159796658-159796708	PANC-1	pancreas:	n/a
28	chr1:159796658-159796708	HNPCEpiC	eye:	n/a
29	chr1:159796658-159796708	AG04450	lung:	fetal
30	chr1:159796658-159796708	HCT-116	colon:	n/a
31	chr1:159796658-159796708	K562	blood:	n/a
32	chr1:159796658-159796708	Caco-2	colon:	n/a
33	chr1:159796658-159796708	HRPEpiC	eye:	n/a
34	chr1:159796658-159796708	LNCaP	prostate:	n/a
35	chr1:159796658-159796708	AG09309	skin:	n/a
36	chr1:159796658-159796708	PFSK-1	brain:	n/a
37	chr1:159796658-159796708	GM12878	blood:	n/a
38	chr1:159796658-159796708	HCF	heart:	n/a
39	chr1:159796658-159796708	HEK293	kidney:	embryo
40	chr1:159796658-159796708	HIPEpiC	eye:	n/a
41	chr1:159796658-159796708	HL-60	blood:	n/a
42	chr1:159796658-159796708	A549	lung:	n/a
43	chr1:159796658-159796708	RPTEC	kidney:	n/a
44	chr1:159796658-159796708	ovcar-3	ovarian:	n/a
45	chr1:159796658-159796708	HCM	heart:	n/a
46	chr1:159796658-159796708	AG10803	skin:	n/a
47	chr1:159796658-159796708	HAEpiC	amniotic membrane:	n/a
48	chr1:159796658-159796708	SK-N-SH	brain:	n/a
49	chr1:159796658-159796708	Hela-S3	cervix:	n/a
50	chr1:159796658-159796708	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159796615..159798686-chr1:159801453..159803054,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLAMF8	TF binding region
SLAMF8	CpG island
ENSG00000158714	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11586788	1.00[CHB][hapmap]
rs2494511	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159793000-159799000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:159793400-159799800	Weak transcription	Lung	lung
3	chr1:159793600-159797000	Weak transcription	Gastric	stomach
4	chr1:159793800-159796800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:159793800-159798800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:159794000-159807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:159794200-159804600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:159794600-159797200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:159794600-159801000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:159794800-159796800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:159794800-159797200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:159794800-159798200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:159794800-159798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:159794800-159798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:159795000-159798400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:159795000-159799200	Enhancers	Primary T cells from cord blood	blood
17	chr1:159795200-159796800	Enhancers	Fetal Thymus	thymus
18	chr1:159795200-159797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:159795200-159797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:159795200-159797400	Enhancers	Small Intestine	intestine
21	chr1:159795200-159797400	Enhancers	Thymus	Thymus
22	chr1:159795200-159798200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:159795200-159800200	Enhancers	Spleen	Spleen
24	chr1:159795400-159797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:159795400-159797600	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:159795400-159798400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:159795400-159807200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:159795600-159796800	Enhancers	Dnd41	blood
29	chr1:159795600-159797600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:159795600-159798400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:159795600-159799000	Enhancers	Primary B cells from cord blood	blood
32	chr1:159795600-159799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:159795800-159797000	Enhancers	Adipose Nuclei	Adipose
34	chr1:159795800-159798200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:159796000-159796800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:159796000-159797200	Enhancers	Fetal Muscle Leg	muscle
37	chr1:159796000-159797200	Enhancers	Right Atrium	heart
38	chr1:159796000-159797400	Enhancers	Esophagus	oesophagus
39	chr1:159796000-159799600	Enhancers	Primary B cells from peripheral blood	blood
40	chr1:159796200-159796800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:159796200-159796800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:159796200-159797400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:159796200-159799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:159796200-159805000	Weak transcription	Left Ventricle	heart
45	chr1:159796400-159797000	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:159796400-159804600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:159796600-159796800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr1:159796600-159796800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:159796600-159796800	Enhancers	HSMM	muscle
50	chr1:159796600-159796800	Enhancers	NH-A	brain

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