Variant report

Variant	rs7614371
Chromosome Location	chr3:134101221-134101222
allele	A/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	MAX	chr3:134100666-134101269	MCF-7	breast:	n/a	n/a
2	TCF12	chr3:134100510-134101289	ECC-1	luminal epithelium:	n/a	chr3:134100846-134100854
3	EP300	chr3:134100481-134101366	ECC-1	luminal epithelium:	n/a	chr3:134100815-134100829
4	SP1	chr3:134100521-134101228	HCT-116	colon:	n/a	chr3:134100774-134100783
5	TCF12	chr3:134100405-134101319	ECC-1	luminal epithelium:	n/a	chr3:134100846-134100854
6	MAX	chr3:134100505-134101270	ECC-1	luminal epithelium:	n/a	n/a
7	HDAC2	chr3:134100576-134101272	MCF-7	breast:	n/a	chr3:134100632-134100646 chr3:134100631-134100645
8	NFIC	chr3:134100421-134101236	ECC-1	luminal epithelium:	n/a	n/a
9	FOXM1	chr3:134100538-134101229	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr3:134100652-134101279	MCF-7	breast:	n/a	n/a
11	ELF1	chr3:134100312-134101229	MCF-7	breast:	n/a	chr3:134100813-134100824
12	ELF1	chr3:134100430-134101290	MCF-7	breast:	n/a	chr3:134100813-134100824
13	RAD21	chr3:134100613-134101226	ECC-1	luminal epithelium:	n/a	n/a
14	SIN3AK20	chr3:134100501-134101393	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:134100431..134103354-chr3:134114088..134116858,2	MCF-7	breast:
2	chr3:134100896..134101491-chr3:134167896..134168544,2	MCF-7	breast:
3	chr3:134099796..134102271-chr3:134165390..134167707,2	MCF-7	breast:
4	chr3:134100220..134102813-chr3:134108741..134110684,2	MCF-7	breast:

Variant related genes	Relation type
HMGN1P9	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11711403	0.85[ASN][1000 genomes]
rs11718883	0.92[ASN][1000 genomes]
rs1366065	0.96[ASN][1000 genomes]
rs1366066	0.96[ASN][1000 genomes]
rs2052831	1.00[ASN][1000 genomes]
rs2400274	0.96[ASN][1000 genomes]
rs2400275	0.96[ASN][1000 genomes]
rs2400276	0.96[ASN][1000 genomes]
rs2895675	0.96[ASN][1000 genomes]
rs34910025	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134094400-134101400	Weak transcription	Aorta	Aorta
2	chr3:134096000-134102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:134097400-134104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:134098000-134101800	Weak transcription	Right Ventricle	heart
5	chr3:134098000-134107200	Weak transcription	Lung	lung
6	chr3:134098000-134111200	Weak transcription	Right Atrium	heart
7	chr3:134100000-134101400	Enhancers	Duodenum Mucosa	Duodenum
8	chr3:134100000-134102000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:134100000-134102000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:134100200-134101400	Enhancers	Adipose Nuclei	Adipose
11	chr3:134100200-134101400	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:134100200-134101400	Enhancers	Pancreas	Pancrea
13	chr3:134100200-134101600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr3:134100200-134101800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:134100200-134102000	Enhancers	Esophagus	oesophagus
16	chr3:134100200-134102000	Enhancers	Stomach Mucosa	stomach
17	chr3:134100400-134101400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:134100400-134101400	Enhancers	Colonic Mucosa	Colon
19	chr3:134100400-134101400	Enhancers	Placenta	Placenta
20	chr3:134100600-134101400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:134100800-134101400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:134100800-134101800	Enhancers	HMEC	breast
23	chr3:134101000-134101400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:134101000-134101400	Flanking Active TSS	NHEK	skin
25	chr3:134101200-134101400	Enhancers	Fetal Lung	lung
26	chr3:134101200-134101400	Enhancers	Gastric	stomach
27	chr3:134101200-134101400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:134101200-134102000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:134101200-134103800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:134101200-134104000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:134101200-134104000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:134101200-134104200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:134101200-134106200	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:134101200-134108000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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