Variant report

Variant	rs2688208
Chromosome Location	chr5:154245460-154245461
allele	C/T
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	GATA3	chr5:154245363-154245828	MCF-7	breast:	n/a	n/a
2	EP300	chr5:154245327-154245799	HepG2	liver:	n/a	n/a
3	MAX	chr5:154245381-154245531	HepG2	liver:	n/a	n/a
4	MAX	chr5:154245348-154245727	MCF-7	breast:	n/a	n/a
5	CEBPB	chr5:154245431-154245659	HepG2	liver:	n/a	chr5:154245637-154245650
6	MYC	chr5:154245380-154245654	MCF10A-Er-Src	breast:	n/a	n/a
7	ARID3A	chr5:154245422-154245604	HepG2	liver:	n/a	n/a
8	FOXA1	chr5:154245309-154245647	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:154245404-154245512	HepG2	liver:	n/a	n/a
10	SP1	chr5:154245234-154245562	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:154245440-154245496	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:154245314..154246938-chr5:154250126..154251678,2	K562	blood:
2	chr5:154245314..154247553-chr5:154250126..154252781,2	K562	blood:
3	chr5:154236614..154239752-chr5:154244144..154246771,3	K562	blood:

Variant related genes	Relation type
CNOT8	TF binding region
ENSG00000170271	Chromatin interaction
ENSG00000155508	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1035368	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs10515727	1.00[CHB][hapmap]
rs12188498	1.00[CHB][hapmap]
rs12188828	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12188906	1.00[CHB][hapmap]
rs12300	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421814	1.00[CHB][hapmap]
rs1421815	1.00[CHB][hapmap]
rs1421819	1.00[CHB][hapmap]
rs164195	0.86[EUR][1000 genomes]
rs17096232	1.00[CHB][hapmap]
rs17116411	0.84[EUR][1000 genomes]
rs17116414	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17116417	1.00[CHB][hapmap]
rs17116421	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17116442	1.00[CEU][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17116455	1.00[CHB][hapmap]
rs17116489	1.00[CHB][hapmap]
rs17116534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116638	1.00[CHB][hapmap]
rs180846	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes]
rs186971	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1974776	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1974777	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2042168	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2047305	0.82[CHB][hapmap]
rs2112223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2161128	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2258437	0.93[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2291780	1.00[CHB][hapmap]
rs2396999	0.93[CEU][hapmap]
rs2544859	0.93[CEU][hapmap];0.82[CHB][hapmap];0.97[YRI][hapmap];0.90[EUR][1000 genomes]
rs2544860	0.86[JPT][hapmap]
rs2544866	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544874	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544875	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2544876	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544880	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2544884	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2560063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644743	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs2644744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2644746	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2688186	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2688187	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688188	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2688189	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2688190	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688191	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2688193	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2688194	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2688195	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2688198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688199	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688200	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2688201	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2688206	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32427	0.86[JPT][hapmap]
rs348739	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs348748	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348749	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs348750	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[EUR][1000 genomes]
rs348751	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348752	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348754	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3776984	1.00[CHB][hapmap]
rs39614	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4354100	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958771	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55770418	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56374414	0.86[EUR][1000 genomes]
rs58415346	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59525998	0.86[EUR][1000 genomes]
rs59749917	0.86[EUR][1000 genomes]
rs6865950	1.00[CHB][hapmap]
rs6879277	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6884416	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6895741	1.00[CHB][hapmap]
rs702742	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73276742	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73280705	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7716019	1.00[CHB][hapmap]
rs7723269	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7728194	0.81[EUR][1000 genomes]
rs816717	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs816718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs816720	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs816722	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs816743	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs816747	0.86[JPT][hapmap]
rs888694	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs960499	0.86[JPT][hapmap]
rs9942412	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154239400-154249800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:154239600-154263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:154240200-154248000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:154240200-154248000	Weak transcription	Gastric	stomach
5	chr5:154240200-154249800	Weak transcription	Pancreas	Pancrea
6	chr5:154240400-154250200	Weak transcription	Fetal Brain Male	brain
7	chr5:154240600-154245600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:154240600-154251000	Weak transcription	Fetal Heart	heart
9	chr5:154240600-154264800	Weak transcription	Stomach Mucosa	stomach
10	chr5:154240800-154248000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:154240800-154249800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:154240800-154250200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:154240800-154256800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:154241000-154246000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:154241000-154255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:154242000-154245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:154242000-154247400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:154242000-154248200	Weak transcription	Right Atrium	heart
19	chr5:154242000-154248600	Strong transcription	K562	blood
20	chr5:154242000-154256800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:154242000-154257600	Strong transcription	Fetal Thymus	thymus
22	chr5:154242200-154247200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:154242200-154247400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:154242200-154248400	Weak transcription	Colonic Mucosa	Colon
25	chr5:154242200-154256800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:154242200-154256800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:154242400-154245600	Strong transcription	NH-A	brain
28	chr5:154242400-154246400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:154242400-154257000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:154242400-154257000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:154242400-154257600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:154242400-154257600	Strong transcription	Liver	Liver
33	chr5:154242600-154247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:154242600-154248400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:154242600-154249000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr5:154242800-154246000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr5:154242800-154246000	Strong transcription	Brain Germinal Matrix	brain
38	chr5:154242800-154246000	Strong transcription	Fetal Lung	lung
39	chr5:154242800-154246000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr5:154242800-154246400	Strong transcription	Fetal Intestine Large	intestine
41	chr5:154242800-154246600	Strong transcription	Fetal Intestine Small	intestine
42	chr5:154242800-154246600	Strong transcription	Fetal Stomach	stomach
43	chr5:154242800-154247200	Strong transcription	Fetal Muscle Leg	muscle
44	chr5:154242800-154248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:154242800-154249000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:154242800-154256800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:154242800-154256800	Strong transcription	Placenta	Placenta
48	chr5:154242800-154257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:154242800-154257000	Strong transcription	HUVEC	blood vessel
50	chr5:154242800-154257200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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