Variant report

Variant	rs17350956
Chromosome Location	chr1:174063001-174063002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:174062960-174063110	HMF	breast:	n/a	n/a
2	CTCF	chr1:174063000-174063150	HMF	breast:	n/a	n/a
3	RAD21	chr1:174062882-174063264	SK-N-SH	brain:	n/a	n/a
4	SMC3	chr1:174062953-174063301	GM12878	blood:	n/a	n/a
5	RAD21	chr1:174062813-174063278	MCF-7	breast:	n/a	n/a
6	RAD21	chr1:174062882-174063257	HepG2	liver:	n/a	n/a
7	CTCF	chr1:174063000-174063150	GM12864	blood:	n/a	n/a
8	CTCF	chr1:174062938-174063216	MCF-7	breast:	n/a	n/a
9	RAD21	chr1:174062968-174063254	A549	lung:	n/a	n/a
10	CTCF	chr1:174063000-174063150	HRE	kidney:	n/a	n/a
11	MEF2A	chr1:174062879-174063237	GM12878	blood:	n/a	n/a
12	CTCF	chr1:174062960-174063110	GM12866	blood:	n/a	n/a
13	CTCF	chr1:174062960-174063110	GM12867	blood:	n/a	n/a
14	ZNF384	chr1:174062916-174063350	K562	blood:	n/a	n/a
15	MAZ	chr1:174062958-174063182	K562	blood:	n/a	n/a
16	CTCF	chr1:174062936-174063300	GM12878	blood:	n/a	n/a
17	CTCF	chr1:174062960-174063110	BE2_C	brain:	n/a	n/a
18	CTCF	chr1:174063000-174063150	HCFaa	heart:	n/a	n/a
19	RAD21	chr1:174062955-174063294	GM12878	blood:	n/a	n/a
20	CTCF	chr1:174062828-174063266	HCT-116	colon:	n/a	n/a
21	RAD21	chr1:174062926-174063288	K562	blood:	n/a	n/a
22	RAD21	chr1:174062859-174063253	HCT-116	colon:	n/a	n/a
23	JUND	chr1:174062970-174063178	K562	blood:	n/a	n/a
24	CTCF	chr1:174062980-174063130	GM12872	blood:	n/a	n/a
25	RAD21	chr1:174062988-174063216	K562	blood:	n/a	n/a
26	RAD21	chr1:174062891-174063261	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr1:174063000-174063150	AG09309	skin:	n/a	n/a
28	CTCF	chr1:174063000-174063150	AG04450	lung:	n/a	n/a
29	CTCF	chr1:174063000-174063150	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr1:174062977-174063224	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:174062917-174063313	K562	blood:	n/a	n/a
32	RAD21	chr1:174062963-174063213	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr1:174063000-174063150	GM06990	blood:	n/a	n/a
34	CTCF	chr1:174062739-174063257	A549	lung:	n/a	n/a
35	RAD21	chr1:174062942-174063222	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr1:174062901-174063230	A549	lung:	n/a	n/a
37	CTCF	chr1:174063000-174063150	AG09319	gingival:	n/a	n/a
38	ARID3A	chr1:174062950-174063209	K562	blood:	n/a	n/a
39	CTCF	chr1:174063000-174063150	GM12868	blood:	n/a	n/a
40	RAD21	chr1:174062896-174063260	GM12878	blood:	n/a	n/a
41	RAD21	chr1:174062947-174063279	HepG2	liver:	n/a	n/a
42	CTCF	chr1:174062908-174063209	K562	blood:	n/a	n/a
43	RAD21	chr1:174062947-174063262	HepG2	liver:	n/a	n/a
44	CTCF	chr1:174063000-174063150	GM12873	blood:	n/a	n/a
45	ZNF143	chr1:174062989-174063189	K562	blood:	n/a	n/a
46	CTCF	chr1:174062960-174063110	GM12875	blood:	n/a	n/a
47	RAD21	chr1:174062848-174063257	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr1:174063000-174063150	HPAF	blood vessel:	n/a	n/a
49	RAD21	chr1:174062929-174063307	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr1:174063000-174063150	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174062359..174063357-chr1:174186847..174187513,2	MCF-7	breast:
2	chr1:174062652..174063623-chr1:174227311..174228008,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL30P1	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10798302	1.00[YRI][hapmap]
rs10798307	0.81[EUR][1000 genomes]
rs10798309	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10912728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912733	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912735	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912737	0.95[CEU][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10912740	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912741	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912746	0.82[EUR][1000 genomes]
rs10912747	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10912750	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10912751	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10912753	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10912754	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11802158	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11807537	0.80[EUR][1000 genomes]
rs12060460	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs12065785	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12066504	1.00[JPT][hapmap]
rs12066700	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs12072050	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12075630	0.83[ASN][1000 genomes]
rs12076453	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12076771	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12079214	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12079687	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12079689	0.82[EUR][1000 genomes]
rs12080977	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12081445	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12082461	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12085311	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12087808	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12091157	0.81[EUR][1000 genomes]
rs12093691	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354141	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1407127	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1417186	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16846717	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16846718	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16846816	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17300775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17350991	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17353198	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1934681	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2103640	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2860907	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3086	0.91[CEU][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233169	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4607949	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4650950	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650951	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650958	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650959	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650968	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4650969	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4650981	0.82[EUR][1000 genomes]
rs4652179	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652191	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652193	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652204	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652275	0.81[EUR][1000 genomes]
rs55698100	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56152378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158362	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56239105	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56338048	0.82[EUR][1000 genomes]
rs56375942	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56404641	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57407575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59044210	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6656491	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6665484	1.00[YRI][hapmap]
rs6666588	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6668008	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6670425	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6676161	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6677660	1.00[YRI][hapmap]
rs6678286	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6685499	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6689285	1.00[YRI][hapmap]
rs6692437	0.82[EUR][1000 genomes]
rs6694208	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6696163	1.00[YRI][hapmap]
rs6697959	1.00[JPT][hapmap]
rs724888	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs724889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711443	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711448	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72711457	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711487	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711492	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711501	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72713503	0.82[EUR][1000 genomes]
rs72713504	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72713505	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs727912	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7535987	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7547766	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7551605	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17350956	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs17350956	RP11-160H22.5	cis	Thyroid	GTEx
rs17350956	RABGAP1L	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174063000-174063600	Enhancers	Primary B cells from peripheral blood	blood

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