Variant report

Variant	rs6794743
Chromosome Location	chr3:150474906-150474907
allele	C/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	FOXA1	chr3:150474433-150474919	HepG2	liver:	n/a	n/a
2	GATA3	chr3:150474230-150475043	T-47D	breast:	n/a	n/a
3	GATA3	chr3:150473996-150475123	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:150474487-150475871	HepG2	liver:	n/a	n/a
5	ESR1	chr3:150474005-150475046	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446
6	FOXA1	chr3:150474451-150474910	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:150474902-150474911	MCF-7	breast:	n/a	n/a
8	TEAD4	chr3:150474432-150474955	HepG2	liver:	n/a	n/a
9	EP300	chr3:150474650-150474938	HepG2	liver:	n/a	chr3:150474693-150474703
10	MAX	chr3:150474142-150475021	MCF-7	breast:	n/a	n/a
11	FOXA1	chr3:150474217-150475069	T-47D	breast:	n/a	n/a
12	ESR1	chr3:150474071-150475160	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446
13	ESR1	chr3:150474117-150475032	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446
14	POLR2A	chr3:150474737-150474951	HepG2	liver:	n/a	n/a
15	JUND	chr3:150474105-150475433	T-47D	breast:	n/a	n/a
16	POLR2A	chr3:150473838-150475088	PBDE	blood:	n/a	n/a
17	POLR2A	chr3:150473877-150476406	HepG2	liver:	n/a	n/a
18	FOXA1	chr3:150474436-150474921	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:150473734-150476416	HepG2	liver:	n/a	n/a
20	NR2F2	chr3:150474037-150474939	MCF-7	breast:	n/a	n/a
21	ESR1	chr3:150474079-150475123	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446
22	GATA3	chr3:150474000-150475036	MCF-7	breast:	n/a	n/a
23	ESR1	chr3:150474114-150475514	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446
24	POLR2A	chr3:150473813-150475394	HepG2	liver:	n/a	n/a
25	POLR2A	chr3:150474288-150476059	HepG2	liver:	n/a	n/a
26	ESR1	chr3:150474071-150475147	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446

No.	Distal block	Cell Line	Cell type
1	chr3:150474254..150475011-chr3:150562123..150562938,2	MCF-7	breast:
2	chr3:150127920..150130058-chr3:150474228..150477225,3	MCF-7	breast:
3	chr3:150454963..150455600-chr3:150474044..150475005,5	MCF-7	breast:
4	chr3:150454713..150455673-chr3:150473952..150475179,28	MCF-7	breast:
5	chr3:150473969..150474942-chr3:150562035..150562940,4	MCF-7	breast:
6	chr3:150419618..150422904-chr3:150472967..150476084,3	MCF-7	breast:
7	chr3:150454667..150455766-chr3:150473952..150475042,29	MCF-7	breast:
8	chr3:150454836..150455500-chr3:150473999..150475061,5	MCF-7	breast:
9	chr3:150473033..150475794-chr3:150515641..150518392,2	K562	blood:
10	chr3:150320990..150323361-chr3:150472616..150475134,2	K562	blood:
11	chr3:150473969..150474942-chr3:150562139..150562940,2	MCF-7	breast:
12	chr3:150319591..150322535-chr3:150472919..150477532,4	MCF-7	breast:
13	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:

Variant related genes	Relation type
SIAH2-AS1	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1345083	1.00[EUR][1000 genomes]
rs16862718	1.00[EUR][1000 genomes]
rs58823857	1.00[EUR][1000 genomes]
rs6772881	1.00[EUR][1000 genomes]
rs6774750	1.00[EUR][1000 genomes]
rs73001325	1.00[EUR][1000 genomes]
rs73001336	1.00[EUR][1000 genomes]
rs73001339	1.00[EUR][1000 genomes]
rs73001358	1.00[EUR][1000 genomes]
rs73003034	1.00[EUR][1000 genomes]
rs73003079	1.00[EUR][1000 genomes]
rs73869298	1.00[EUR][1000 genomes]
rs73869299	1.00[EUR][1000 genomes]
rs73869301	1.00[EUR][1000 genomes]
rs7619908	1.00[EUR][1000 genomes]
rs935223	1.00[EUR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150453800-150478000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150454600-150477200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:150456400-150477600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150456600-150477600	Weak transcription	Fetal Brain Male	brain
5	chr3:150456800-150477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:150457600-150477600	Weak transcription	HUVEC	blood vessel
8	chr3:150459000-150477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:150460200-150477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:150460400-150475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150460400-150477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:150462800-150477000	Weak transcription	Brain Angular Gyrus	brain
13	chr3:150463000-150475400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:150463000-150477800	Weak transcription	NH-A	brain
15	chr3:150463000-150478400	Weak transcription	HSMM	muscle
16	chr3:150463200-150475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:150463200-150477600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:150464800-150477000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:150465000-150475200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:150466200-150477600	Weak transcription	Aorta	Aorta
21	chr3:150466400-150477800	Weak transcription	Brain Substantia Nigra	brain
22	chr3:150466800-150477600	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:150467000-150477000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:150467000-150477600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:150467000-150477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:150467200-150477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:150467400-150477200	Weak transcription	NHDF-Ad	bronchial
28	chr3:150467400-150477600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:150470000-150477000	Weak transcription	A549	lung
30	chr3:150470000-150477600	Weak transcription	Fetal Lung	lung
31	chr3:150470000-150477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:150470000-150478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:150470200-150475200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:150470200-150475200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:150470200-150475800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:150470200-150476200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:150470200-150477000	Weak transcription	HMEC	breast
38	chr3:150470200-150477400	Weak transcription	Primary T cells from cord blood	blood
39	chr3:150470200-150477600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:150470200-150477800	Weak transcription	Right Ventricle	heart
41	chr3:150470400-150475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:150470600-150477000	Weak transcription	Primary B cells from cord blood	blood
43	chr3:150470600-150477800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:150471000-150477000	Weak transcription	Colonic Mucosa	Colon
45	chr3:150471200-150475200	Weak transcription	Fetal Thymus	thymus
46	chr3:150471200-150475200	Weak transcription	NHLF	lung
47	chr3:150471200-150476000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:150471200-150477200	Weak transcription	Psoas Muscle	Psoas
49	chr3:150471200-150477200	Weak transcription	Spleen	Spleen
50	chr3:150471200-150477400	Weak transcription	Stomach Smooth Muscle	stomach

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