Variant report

Variant	rs72702270
Chromosome Location	chr1:155050723-155050724
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	MAZ	chr1:155050337-155053032	IMR90	lung:	n/a	chr1:155052884-155052893
2	FOXA1	chr1:155050593-155050885	HepG2	liver:	n/a	n/a
3	GATA3	chr1:155050551-155051221	MCF-7	breast:	n/a	chr1:155051060-155051068 chr1:155050678-155050685 chr1:155051062-155051079 chr1:155051061-155051068
4	STAT5A	chr1:155050430-155050797	GM12878	blood:	n/a	chr1:155050741-155050764
5	POLR2A	chr1:155049818-155050738	MCF-7	breast:	n/a	n/a
6	GATA2	chr1:155050616-155051310	SH-SY5Y	brain:	n/a	chr1:155050678-155050685 chr1:155051062-155051079 chr1:155051061-155051068
7	GATA3	chr1:155050702-155051498	A549	lung:	n/a	chr1:155051060-155051068 chr1:155051062-155051079 chr1:155051061-155051068
8	MXI1	chr1:155050357-155054177	SK-N-SH	brain:	n/a	chr1:155053571-155053580
9	EGR1	chr1:155050648-155051646	HCT-116	colon:	n/a	chr1:155051196-155051210 chr1:155051371-155051381 chr1:155051198-155051212 chr1:155051200-155051210 chr1:155051200-155051211 chr1:155051267-155051280
10	EGR1	chr1:155050707-155051563	HCT-116	colon:	n/a	chr1:155051196-155051210 chr1:155051371-155051381 chr1:155051198-155051212 chr1:155051200-155051210 chr1:155051200-155051211 chr1:155051267-155051280
11	REST	chr1:155050669-155054549	H1-neurons	neurons:	n/a	chr1:155051877-155051884 chr1:155052354-155052367 chr1:155052473-155052486 chr1:155053451-155053461 chr1:155052462-155052472 chr1:155053458-155053471 chr1:155052351-155052360 chr1:155052361-155052374 chr1:155054419-155054432 chr1:155051344-155051354 chr1:155052354-155052367
12	NR3C1	chr1:155050187-155050813	A549	lung:	n/a	chr1:155050522-155050538 chr1:155050523-155050537 chr1:155050521-155050539
13	EBF1	chr1:155050399-155050776	GM12878	blood:	n/a	chr1:155050583-155050594 chr1:155050584-155050594 chr1:155050584-155050593 chr1:155050584-155050593 chr1:155050582-155050595
14	EBF1	chr1:155050423-155050750	GM12878	blood:	n/a	chr1:155050583-155050594 chr1:155050584-155050594 chr1:155050584-155050593 chr1:155050584-155050593 chr1:155050582-155050595

No.	Distal block	Cell Line	Cell type
1	chr1:155049427..155051718-chr1:155163518..155166382,2	K562	blood:
2	chr1:154981203..154983632-chr1:155047843..155050809,2	MCF-7	breast:
3	chr1:155050575..155052612-chr1:155144958..155146789,2	MCF-7	breast:
4	chr1:154934087..154936178-chr1:155049998..155052380,2	MCF-7	breast:
5	chr1:154967268..154977621-chr1:155049775..155059069,28	MCF-7	breast:
6	chr1:154972330..154977027-chr1:155049641..155053541,6	K562	blood:
7	chr1:155049689..155051785-chr7:150780053..150782856,2	MCF-7	breast:
8	chr1:155049512..155051189-chr1:155144377..155146582,2	MCF-7	breast:
9	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
10	chr1:154966527..154969835-chr1:155047829..155051093,3	MCF-7	breast:
11	chr1:155048313..155051843-chr1:155107968..155110316,3	K562	blood:
12	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:

Variant related genes	Relation type
EFNA3	TF binding region
ENSG00000169241	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000202027	Chromatin interaction
ENSG00000271380	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000164897	Chromatin interaction
ENSG00000163463	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1218557	1.00[ASN][1000 genomes]
rs1218558	1.00[ASN][1000 genomes]
rs1218562	1.00[ASN][1000 genomes]
rs1218574	1.00[ASN][1000 genomes]
rs4845710	1.00[ASN][1000 genomes]
rs72702284	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155043800-155050800	Weak transcription	A549	lung
2	chr1:155044000-155051000	Weak transcription	Pancreas	Pancrea
3	chr1:155044000-155051000	Weak transcription	Right Atrium	heart
4	chr1:155044200-155050800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:155044600-155050800	Weak transcription	Lung	lung
6	chr1:155044600-155051000	Weak transcription	Gastric	stomach
7	chr1:155046400-155051000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:155046400-155051000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:155046600-155050800	Weak transcription	GM12878-XiMat	blood
10	chr1:155046600-155051000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:155046600-155051200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:155046800-155050800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:155046800-155051000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:155047200-155050800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:155047200-155051000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:155047400-155050800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:155047800-155050800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:155047800-155050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:155048800-155051400	Bivalent Enhancer	Fetal Thymus	thymus
20	chr1:155049200-155050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:155049600-155051000	Enhancers	Fetal Intestine Large	intestine
22	chr1:155049600-155051000	Enhancers	Fetal Intestine Small	intestine
23	chr1:155049800-155050800	Enhancers	Stomach Mucosa	stomach
24	chr1:155049800-155051000	Enhancers	HMEC	breast
25	chr1:155050000-155050800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:155050000-155050800	Enhancers	NHEK	skin
27	chr1:155050000-155051200	Flanking Active TSS	K562	blood
28	chr1:155050000-155051600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:155050200-155050800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr1:155050200-155051000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr1:155050200-155051400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:155050400-155050800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:155050400-155050800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:155050400-155050800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:155050400-155051000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:155050400-155051200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:155050400-155051600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:155050600-155050800	Enhancers	Primary T cells from cord blood	blood
39	chr1:155050600-155050800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:155050600-155050800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:155050600-155050800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:155050600-155050800	Enhancers	Fetal Brain Male	brain
43	chr1:155050600-155051000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:155050600-155051000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:155050600-155051000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr1:155050600-155051000	Enhancers	Esophagus	oesophagus
47	chr1:155050600-155051000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr1:155050600-155051000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr1:155050600-155051000	Enhancers	Right Ventricle	heart
50	chr1:155050600-155051200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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