Variant report

Variant	rs73077604
Chromosome Location	chr1:197653463-197653464
allele	G/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	chr1:197652845-197653565	SK-N-SH	brain:	n/a	n/a
2	TCF7L2	chr1:197652853-197653738	HEK293	kidney:	n/a	n/a
3	PBX3	chr1:197652915-197653499	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:197652946-197653483	SK-N-MC	brain:	n/a	n/a
5	EP300	chr1:197652296-197654136	SK-N-SH	brain:	n/a	chr1:197653623-197653637
6	CEBPB	chr1:197653442-197653747	HepG2	liver:	n/a	chr1:197653625-197653636 chr1:197653625-197653638 chr1:197653626-197653637 chr1:197653625-197653638 chr1:197653625-197653638
7	JUND	chr1:197652896-197653500	SK-N-SH	brain:	n/a	chr1:197653142-197653149
8	TCF12	chr1:197652846-197653617	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr1:197652388-197654202	SH-SY5Y	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822
10	FOS	chr1:197652857-197653589	MCF10A-Er-Src	breast:	n/a	chr1:197653142-197653149
11	GATA3	chr1:197652355-197653989	SH-SY5Y	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822
12	PBX3	chr1:197652871-197653614	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr1:197652799-197653856	SK-N-SH	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822
14	GATA3	chr1:197652845-197653814	SK-N-SH	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653738-197653747
15	EP300	chr1:197652824-197653583	SK-N-SH	brain:	n/a	n/a
16	TEAD4	chr1:197652878-197653500	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:
2	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:

Variant related genes	Relation type
EEF1A1P32	TF binding region
ENSG00000213046	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10082059	1.00[AMR][1000 genomes]
rs13374542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28485341	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57589685	1.00[AMR][1000 genomes]
rs57594005	1.00[AMR][1000 genomes]
rs59416760	1.00[AMR][1000 genomes]
rs6428420	1.00[AMR][1000 genomes]
rs6686513	1.00[AMR][1000 genomes]
rs6686735	1.00[AMR][1000 genomes]
rs6688961	1.00[AMR][1000 genomes]
rs6694441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075690	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077640	0.90[AFR][1000 genomes]
rs73079634	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079655	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081752	1.00[AMR][1000 genomes]
rs73081769	1.00[AMR][1000 genomes]
rs73081781	1.00[AMR][1000 genomes]
rs73081791	1.00[AMR][1000 genomes]
rs73081794	1.00[AMR][1000 genomes]
rs7516293	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519957	1.00[AMR][1000 genomes]
rs7526273	1.00[AMR][1000 genomes]
rs7528697	1.00[AMR][1000 genomes]
rs7539224	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:197645200-197661000	Weak transcription	Esophagus	oesophagus
4	chr1:197645400-197655600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:197645600-197657400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:197647200-197657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:197650000-197654800	Weak transcription	Liver	Liver
8	chr1:197650800-197653600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:197652000-197654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:197652200-197655800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:197652400-197653600	Enhancers	Fetal Heart	heart
12	chr1:197652400-197654000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:197652600-197653600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:197652600-197653600	Enhancers	HMEC	breast
15	chr1:197652600-197657000	Weak transcription	Pancreas	Pancrea
16	chr1:197652800-197657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:197653000-197653600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:197653000-197653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:197653000-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:197653000-197665400	Weak transcription	Osteobl	bone
21	chr1:197653200-197653600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:197653200-197655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:197653200-197659400	Weak transcription	Left Ventricle	heart
24	chr1:197653200-197660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:197653400-197654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:197653400-197654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:197653400-197654800	Weak transcription	Fetal Lung	lung
28	chr1:197653400-197654800	Weak transcription	Hela-S3	cervix
29	chr1:197653400-197655200	Enhancers	NHEK	skin
30	chr1:197653400-197656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:197653400-197662000	Weak transcription	Rectal Smooth Muscle	rectum

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