Variant report

Variant	rs7355019
Chromosome Location	chr1:210550539-210550540
allele	A/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	NFIC	chr1:210550173-210550818	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr1:210550088-210551772	SK-N-SH	brain:	n/a	n/a
3	EP300	chr1:210550063-210550923	SK-N-SH	brain:	n/a	chr1:210550618-210550632
4	PBX3	chr1:210550208-210550826	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr1:210550254-210550887	SK-N-SH	brain:	n/a	chr1:210550485-210550494
6	FOS	chr1:210550384-210550659	MCF10A-Er-Src	breast:	n/a	chr1:210550485-210550494
7	JUND	chr1:210550217-210551721	SK-N-SH	brain:	n/a	chr1:210550485-210550494
8	GATA3	chr1:210550227-210550905	SK-N-SH	brain:	n/a	chr1:210550809-210550819
9	EP300	chr1:210550323-210550627	SK-N-SH_RA	brain:	n/a	n/a
10	TEAD4	chr1:210550209-210550846	SK-N-SH	brain:	n/a	n/a
11	MAX	chr1:210550224-210550640	SK-N-SH	brain:	n/a	chr1:210550620-210550629
12	STAT3	chr1:210550372-210550658	MCF10A-Er-Src	breast:	n/a	chr1:210550508-210550519 chr1:210550389-210550396 chr1:210550510-210550518
13	FOSL2	chr1:210550303-210550800	SK-N-SH	brain:	n/a	chr1:210550485-210550494
14	TCF12	chr1:210550184-210550901	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:210550242-210550663	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr1:210550190-210550886	SK-N-SH	brain:	n/a	n/a
17	JUND	chr1:210550141-210550883	SK-N-SH	brain:	n/a	chr1:210550485-210550494
18	GATA3	chr1:210550145-210550932	SK-N-SH	brain:	n/a	chr1:210550809-210550819
19	FOS	chr1:210550342-210550609	MCF10A-Er-Src	breast:	n/a	chr1:210550485-210550494
20	EP300	chr1:210550261-210550629	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr1:210550169-210551742	SK-N-SH	brain:	n/a	chr1:210551672-210551682 chr1:210551033-210551041 chr1:210551062-210551076 chr1:210550618-210550632
22	FOS	chr1:210550440-210550678	MCF10A-Er-Src	breast:	n/a	chr1:210550485-210550494
23	STAT3	chr1:210550387-210550697	MCF10A-Er-Src	breast:	n/a	chr1:210550508-210550519 chr1:210550389-210550396 chr1:210550510-210550518
24	JUND	chr1:210550213-210550993	SK-N-SH	brain:	n/a	chr1:210550485-210550494

No.	Distal block	Cell Line	Cell type
1	chr1:210549868..210552421-chr1:210574134..210576852,2	K562	blood:
2	chr1:210550399..210552265-chr1:210555579..210558136,2	MCF-7	breast:
3	chr1:210550122..210554367-chr1:210555411..210560476,4	K562	blood:
4	chr1:210548070..210550823-chr1:211662060..211664424,2	K562	blood:

Variant related genes	Relation type
RNU5A-8P	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10489388	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs12140650	1.00[ASN][1000 genomes]
rs12729428	0.83[ASN][1000 genomes]
rs17016026	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs17759021	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2273009	0.89[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2357583	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3765872	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3765879	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs60935759	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826890	0.90[EUR][1000 genomes]
rs61828656	0.82[EUR][1000 genomes]
rs6540589	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6656628	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6656669	0.89[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666446	0.90[EUR][1000 genomes]
rs6669428	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6672972	0.97[ASN][1000 genomes]
rs6677509	1.00[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs6690120	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7354957	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs742560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527939	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7530104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550408	0.83[EUR][1000 genomes]
rs7550554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926582	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210536800-210551000	Weak transcription	Right Ventricle	heart
3	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
4	chr1:210537000-210550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
6	chr1:210543200-210555800	Weak transcription	Right Atrium	heart
7	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210543400-210551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210546600-210566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:210547200-210550800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:210547600-210555200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:210548000-210551000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:210548200-210550800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:210548400-210550800	Weak transcription	HMEC	breast
15	chr1:210548600-210556000	Weak transcription	HepG2	liver
16	chr1:210548600-210566400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:210549000-210551000	Weak transcription	A549	lung
18	chr1:210549600-210552600	Enhancers	HSMMtube	muscle
19	chr1:210549600-210552600	Enhancers	Osteobl	bone
20	chr1:210549600-210552800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:210549800-210551200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:210549800-210551200	Enhancers	NHLF	lung
23	chr1:210549800-210551400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:210549800-210552800	Enhancers	NHDF-Ad	bronchial
25	chr1:210550000-210551000	Enhancers	NH-A	brain
26	chr1:210550000-210551400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:210550000-210552600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:210550000-210552800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:210550000-210553000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:210550200-210551000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:210550200-210552600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:210550200-210553400	Enhancers	HSMM	muscle
33	chr1:210550200-210557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:210550400-210550600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:210550400-210550600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:210550400-210550800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:210550400-210551600	Bivalent Enhancer	NHEK	skin

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