Variant report

Variant	rs751748
Chromosome Location	chr1:227920447-227920448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227910908-227920562	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:227914982-227921463	K562	blood:	n/a	n/a
3	POLR2A	chr1:227910941-227920625	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:227920018-227920602	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr1:227920048-227920802	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:227915658-227920836	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:227914462-227920881	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:227920381-227920724	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:227914027-227920701	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:227916211-227920587	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr1:227920367-227920960	HL-60	blood:	n/a	n/a
12	POLR2A	chr1:227915700-227921841	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:227914208-227920934	K562	blood:	n/a	n/a
14	POLR2A	chr1:227915624-227920666	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:227916242-227920809	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:227920345-227921869	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:227915660-227921896	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:227920356-227921037	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:227915672-227920956	HEK293	kidney:	n/a	n/a
20	POLR2A	chr1:227916255-227921984	K562	blood:	n/a	n/a
21	POLR2A	chr1:227920302-227920748	GM12891	blood:	n/a	n/a
22	POLR2A	chr1:227916827-227921915	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:227916248-227922017	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr1:227920210-227920529	K562	blood:	n/a	n/a
25	POLR2A	chr1:227915744-227920847	GM18505	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227917727..227921370-chr1:227944241..227947517,4	MCF-7	breast:
2	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:
3	chr1:227754198..227755750-chr1:227920040..227921876,2	K562	blood:
4	chr1:227917861..227920741-chr1:228675887..228677861,2	MCF-7	breast:
5	chr1:227672982..227674850-chr1:227918666..227921281,2	MCF-7	breast:
6	chr1:227919994..227921711-chr6:43019722..43021797,2	MCF-7	breast:
7	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:

No data

Variant related genes	Relation type
SNAP47	TF binding region
ENSG00000230005	Chromatin interaction
ENSG00000143740	Chromatin interaction
ENSG00000143816	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000044090	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10495277	0.84[CEU][hapmap]
rs10799438	0.91[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs1154835	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11805477	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11806830	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12122398	0.84[CEU][hapmap];0.89[MEX][hapmap]
rs12123869	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12124325	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12135976	0.85[EUR][1000 genomes]
rs12138942	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs12141938	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1390400	0.83[CEU][hapmap]
rs16848036	0.83[EUR][1000 genomes]
rs1923822	0.91[CEU][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1951729	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2012386	0.85[EUR][1000 genomes]
rs2031134	0.85[EUR][1000 genomes]
rs2093608	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2313245	0.84[CEU][hapmap];0.89[MEX][hapmap]
rs2999750	0.85[EUR][1000 genomes]
rs3010188	0.85[EUR][1000 genomes]
rs3087908	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34901559	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4306097	0.84[CEU][hapmap]
rs4653851	0.84[CEU][hapmap]
rs4653862	0.85[EUR][1000 genomes]
rs4653864	0.85[EUR][1000 genomes]
rs4653865	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4653867	0.91[CEU][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs55721361	0.85[EUR][1000 genomes]
rs55841672	0.83[EUR][1000 genomes]
rs56197655	0.83[EUR][1000 genomes]
rs57346808	0.85[EUR][1000 genomes]
rs58274339	0.85[EUR][1000 genomes]
rs59336221	0.83[EUR][1000 genomes]
rs60625678	0.83[EUR][1000 genomes]
rs61322441	0.83[EUR][1000 genomes]
rs61566561	0.85[EUR][1000 genomes]
rs6426469	0.91[CEU][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs6699448	0.85[EUR][1000 genomes]
rs7528010	0.85[EUR][1000 genomes]
rs754224	0.81[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9725624	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS 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	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3387540	chr1:227919379-227922177	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
9	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs751748	ZNF678	Cis_1M	lymphoblastoid	RTeQTL
rs751748	SNAP47	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227916800-227921600	Weak transcription	HUVEC	blood vessel
2	chr1:227917000-227921000	Weak transcription	Hela-S3	cervix
3	chr1:227917000-227921800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:227917000-227921800	Weak transcription	Psoas Muscle	Psoas
5	chr1:227917200-227921400	Weak transcription	Fetal Brain Male	brain
6	chr1:227917200-227921400	Weak transcription	NH-A	brain
7	chr1:227917200-227921600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:227917200-227921600	Weak transcription	Stomach Mucosa	stomach
9	chr1:227917200-227922000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:227917400-227921400	Weak transcription	Primary B cells from cord blood	blood
11	chr1:227917400-227921400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:227917600-227921400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:227917800-227921400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:227918000-227921600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:227918200-227921200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:227918200-227921800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr1:227918400-227921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:227918400-227921200	Strong transcription	Fetal Stomach	stomach
19	chr1:227918400-227921200	Strong transcription	Thymus	Thymus
20	chr1:227918400-227921800	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr1:227918400-227922000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:227918600-227920600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:227918600-227921000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:227918600-227921000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:227918600-227921000	Strong transcription	Esophagus	oesophagus
26	chr1:227918600-227921200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:227918600-227921200	Strong transcription	HSMMtube	muscle
28	chr1:227918600-227921200	Strong transcription	NHEK	skin
29	chr1:227918600-227921400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:227918600-227921400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:227918600-227921400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:227918600-227921400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:227918600-227921400	Strong transcription	K562	blood
34	chr1:227918600-227921400	Strong transcription	NHLF	lung
35	chr1:227918600-227921600	Weak transcription	Right Atrium	heart
36	chr1:227918600-227921600	Strong transcription	A549	lung
37	chr1:227918600-227921600	Weak transcription	HSMM	muscle
38	chr1:227918600-227922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:227918600-227922000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:227918800-227920600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:227918800-227920600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr1:227918800-227920600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:227918800-227920800	Strong transcription	Gastric	stomach
44	chr1:227918800-227921000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:227918800-227921000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:227918800-227921000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:227918800-227921000	Strong transcription	Adipose Nuclei	Adipose
48	chr1:227918800-227921000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:227918800-227921000	Strong transcription	HMEC	breast
50	chr1:227918800-227921200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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