Variant report

Variant	rs6670315
Chromosome Location	chr1:174929600-174929601
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	CEBPB	chr1:174929497-174929874	K562	blood:	n/a	chr1:174929688-174929699
2	CEBPB	chr1:174929583-174929807	H1-hESC	embryonic stem cell:	n/a	chr1:174929688-174929699
3	CEBPB	chr1:174929508-174929856	A549	lung:	n/a	chr1:174929688-174929699
4	CEBPB	chr1:174929540-174929841	HepG2	liver:	n/a	chr1:174929688-174929699
5	CEBPB	chr1:174929514-174929876	IMR90	lung:	n/a	chr1:174929688-174929699

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174923792..174926016-chr1:174927596..174930266,2	MCF-7	breast:
2	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000116161	Chromatin interaction
ENSG00000252552	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1012182	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs1034462	1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs1058741	0.89[GIH][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs10798324	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs10798327	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs10912843	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs10912853	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10912854	0.85[CEU][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs10912855	0.85[EUR][1000 genomes]
rs10912857	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063093	0.84[EUR][1000 genomes]
rs12078839	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs12094876	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs1231829	0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs1329281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1613634	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs1618408	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1622802	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs1653630	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs16847624	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17302033	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs17302165	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17302367	0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1754352	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs1754354	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs1754360	0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs1793292	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs1793294	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1793298	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs1793305	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs1793310	0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs1793316	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs1793320	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs1894199	0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs1894201	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs1894680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2003378	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2156854	0.88[JPT][hapmap]
rs2157541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157567	0.91[ASN][1000 genomes]
rs2183202	0.84[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2860725	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs2987872	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs2987873	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3118986	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3118987	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3118988	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3118990	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap]
rs3766697	0.91[ASN][1000 genomes]
rs4480415	0.88[JPT][hapmap]
rs464635	0.81[ASN][1000 genomes]
rs4651205	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs4651231	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4651235	0.84[EUR][1000 genomes]
rs4652797	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs55774740	0.91[ASN][1000 genomes]
rs55793234	0.80[EUR][1000 genomes]
rs6425298	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs6425302	1.00[JPT][hapmap]
rs6425303	0.81[CEU][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap]
rs6425306	0.82[EUR][1000 genomes]
rs6671196	0.81[EUR][1000 genomes]
rs6671272	0.82[EUR][1000 genomes]
rs6671782	0.85[EUR][1000 genomes]
rs6675528	0.81[CEU][hapmap];0.87[CHD][hapmap];0.97[LWK][hapmap]
rs66836419	0.82[EUR][1000 genomes]
rs6684229	0.85[EUR][1000 genomes]
rs6684515	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes]
rs6687616	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6693979	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs6696465	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs6697561	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.90[TSI][hapmap]
rs67054007	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67133776	0.83[EUR][1000 genomes]
rs67203477	0.82[EUR][1000 genomes]
rs67903803	0.82[EUR][1000 genomes]
rs72717649	0.82[EUR][1000 genomes]
rs72717650	0.82[EUR][1000 genomes]
rs72717653	0.82[EUR][1000 genomes]
rs72717661	0.81[EUR][1000 genomes]
rs72717670	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74128535	0.91[ASN][1000 genomes]
rs7516410	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7531032	0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs7543147	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs7547658	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs7554767	0.91[ASN][1000 genomes]
rs913686	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs913687	0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]

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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6670315	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs6670315	TNR	cis	parietal	SCAN
rs6670315	MRPS14	cis	lymphoblastoid	seeQTL
rs6670315	MRPS14	cis	parietal	SCAN
rs6670315	SLC19A2	cis	cerebellum	SCAN
rs6670315	RABGAP1L	cis	multi-tissue	Pritchard
rs6670315	RC3H1	cis	parietal	SCAN
rs6670315	RP11-160H22.5	cis	Thyroid	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
3	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:174908800-174932200	Weak transcription	Primary T cells from cord blood	blood
5	chr1:174910400-174932400	Weak transcription	HSMMtube	muscle
6	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
8	chr1:174914800-174932800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:174923000-174933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:174923400-174932400	Weak transcription	Fetal Heart	heart
11	chr1:174924000-174932200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:174924000-174932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:174924000-174933400	Weak transcription	Ovary	ovary
14	chr1:174924000-174933800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:174924000-174938200	Weak transcription	Psoas Muscle	Psoas
16	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
17	chr1:174924400-174932400	Weak transcription	Fetal Stomach	stomach
18	chr1:174924400-174933600	Weak transcription	Fetal Kidney	kidney
19	chr1:174924400-174958200	Weak transcription	Fetal Brain Male	brain
20	chr1:174924600-174932800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:174924600-174932800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:174924800-174932400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:174924800-174932600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:174925000-174933200	Weak transcription	Primary B cells from cord blood	blood
25	chr1:174925000-174933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:174925000-174934400	Weak transcription	Pancreas	Pancrea
27	chr1:174925000-174940800	Weak transcription	Gastric	stomach
28	chr1:174925400-174930800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:174925600-174929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:174925600-174930400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:174925800-174930600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:174926200-174930400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:174926200-174930600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:174926200-174930800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:174926800-174932200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:174927000-174932000	Weak transcription	Fetal Intestine Small	intestine
37	chr1:174927200-174929800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:174927200-174932400	Weak transcription	Liver	Liver
39	chr1:174927200-174932400	Weak transcription	Small Intestine	intestine
40	chr1:174927400-174929600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:174927400-174930000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:174927400-174932000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:174927400-174932000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:174927400-174932000	Weak transcription	Dnd41	blood
45	chr1:174927400-174932400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:174927600-174933200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:174927800-174932200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:174927800-174934400	Weak transcription	Right Atrium	heart
49	chr1:174928000-174932200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:174928000-174932200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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