Variant report

Variant	rs67988001
Chromosome Location	chr2:85787123-85787124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:85786834-85787239	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:85786820-85787210	HepG2	liver:	n/a	n/a
3	TBP	chr2:85786934-85787212	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:85786859-85787211	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:85786769-85787242	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:85786777-85787293	HepG2	liver:	n/a	n/a
7	ELF1	chr2:85786800-85787142	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:85786943-85787358	HepG2	liver:	n/a	n/a
9	MBD4	chr2:85786821-85787310	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:85786845-85787259	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:85786969-85787207	HepG2	liver:	n/a	n/a
12	HEY1	chr2:85786754-85787395	HepG2	liver:	n/a	n/a
13	TEAD4	chr2:85786684-85787350	HepG2	liver:	n/a	n/a
14	FOXA2	chr2:85786839-85787306	HepG2	liver:	n/a	n/a
15	EP300	chr2:85786765-85787342	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:85786767-85789717	HepG2	liver:	n/a	n/a
17	FOXA1	chr2:85786771-85787227	HepG2	liver:	n/a	n/a
18	HNF4G	chr2:85786846-85787305	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:85786707-85787353	HepG2	liver:	n/a	n/a
20	MYBL2	chr2:85786736-85787493	HepG2	liver:	n/a	n/a
21	HDAC2	chr2:85786826-85787345	HepG2	liver:	n/a	n/a
22	FOXA1	chr2:85786818-85787160	HepG2	liver:	n/a	n/a
23	JUN	chr2:85786918-85787226	HepG2	liver:	n/a	n/a
24	SP1	chr2:85786818-85787296	HepG2	liver:	n/a	n/a
25	EP300	chr2:85786817-85787189	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:85786932-85787278	HepG2	liver:	n/a	n/a
27	HEY1	chr2:85786850-85787227	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85786982..85789648-chr2:85837896..85843296,4	MCF-7	breast:
2	chr2:85644876..85649493-chr2:85786296..85791442,7	MCF-7	breast:
3	chr2:85786998..85790131-chr2:85804287..85808110,8	MCF-7	breast:
4	chr2:85644868..85648304-chr2:85783356..85788933,7	MCF-7	breast:
5	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
6	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:
7	chr2:85786233..85788829-chr2:85802669..85804855,3	K562	blood:
8	chr2:85552687..85556977-chr2:85784981..85789201,5	K562	blood:
9	chr2:85609654..85691056-chr2:85759187..85790499,656	K562	blood:
10	chr2:85784214..85789573-chr2:85827295..85831622,10	MCF-7	breast:
11	chr2:85771408..85781005-chr2:85784986..85791406,15	MCF-7	breast:
12	chr2:85765231..85769518-chr2:85784806..85790228,6	MCF-7	breast:
13	chr2:85539823..85542661-chr2:85786537..85789021,2	K562	blood:
14	chr2:85786233..85790202-chr2:85803177..85805521,3	K562	blood:
15	chr2:85786482..85790460-chr2:85816178..85820132,9	MCF-7	breast:
16	chr2:85553459..85556724-chr2:85785432..85789140,4	MCF-7	breast:
17	chr2:85785973..85791563-chr2:85836230..85840689,7	MCF-7	breast:
18	chr2:85787036..85790013-chr2:85817133..85820348,4	MCF-7	breast:
19	chr2:85786921..85788482-chr2:85822883..85825336,2	MCF-7	breast:
20	chr2:85634213..85635735-chr2:85786387..85788534,2	MCF-7	breast:

No data

Variant related genes	Relation type
VAMP8	TF binding region
ENSG00000273196	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000168887	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000246575	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000207207	Chromatin interaction
ENSG00000168890	Chromatin interaction
ENSG00000168899	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000152291	Chromatin interaction
ENSG00000252293	Chromatin interaction
ENSG00000199936	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000244399	Chromatin interaction
ENSG00000042493	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10172544	0.81[ASN][1000 genomes]
rs11126995	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11311	0.83[ASN][1000 genomes]
rs11895341	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11895399	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11895401	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12615553	0.91[ASN][1000 genomes]
rs12714145	0.81[ASN][1000 genomes]
rs1446669	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2043675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2592551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3731828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755008	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55692129	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56819945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58307667	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs58644336	0.85[ASN][1000 genomes]
rs58768785	0.91[ASN][1000 genomes]
rs60012532	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60788310	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6547622	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547623	0.83[ASN][1000 genomes]
rs6722691	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6731700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6735663	0.85[ASN][1000 genomes]
rs6738645	0.80[ASN][1000 genomes]
rs699664	0.95[ASN][1000 genomes]
rs72643495	0.89[ASN][1000 genomes]
rs73943244	0.89[ASN][1000 genomes]
rs7568458	0.80[ASN][1000 genomes]
rs7579147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593969	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7608074	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs762684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85769400-85787800	Weak transcription	Right Atrium	heart
2	chr2:85769800-85788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:85770200-85787800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:85777000-85787200	Strong transcription	NHEK	skin
5	chr2:85779200-85787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:85779600-85787600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:85780200-85787200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:85782000-85787800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:85782400-85787600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:85782400-85787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:85782400-85787600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:85782600-85787200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:85782600-85787600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:85782600-85787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:85782800-85787800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:85782800-85788000	Weak transcription	Aorta	Aorta
17	chr2:85783000-85787800	Weak transcription	Ovary	ovary
18	chr2:85783200-85788200	Weak transcription	Small Intestine	intestine
19	chr2:85783400-85787200	Weak transcription	Colonic Mucosa	Colon
20	chr2:85783600-85787200	Weak transcription	Primary B cells from cord blood	blood
21	chr2:85785800-85787200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:85785800-85787200	Weak transcription	Right Ventricle	heart
23	chr2:85785800-85787600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:85786000-85787200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:85786000-85787200	Genic enhancers	Placenta	Placenta
26	chr2:85786000-85787200	Enhancers	GM12878-XiMat	blood
27	chr2:85786000-85787200	Genic enhancers	HSMM	muscle
28	chr2:85786000-85787400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:85786200-85787200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:85786200-85787200	Weak transcription	Primary T cells from cord blood	blood
31	chr2:85786200-85787200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:85786200-85787200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:85786200-85787200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:85786200-85787200	Weak transcription	Brain Substantia Nigra	brain
35	chr2:85786200-85787200	Weak transcription	Fetal Thymus	thymus
36	chr2:85786200-85787200	Weak transcription	Left Ventricle	heart
37	chr2:85786200-85787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:85786200-85787200	Weak transcription	NH-A	brain
39	chr2:85786200-85787400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:85786200-85787600	Weak transcription	Fetal Intestine Large	intestine
41	chr2:85786200-85787600	Weak transcription	Spleen	Spleen
42	chr2:85786200-85787800	Weak transcription	Esophagus	oesophagus
43	chr2:85786200-85787800	Weak transcription	Fetal Kidney	kidney
44	chr2:85786400-85787200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:85786400-85787200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:85786400-85787200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:85786400-85787200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:85786400-85787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:85786400-85787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:85786400-85787200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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