Variant report

Variant	rs73861400
Chromosome Location	chr3:134094522-134094523
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	ZBTB7A	chr3:134093144-134094694	ECC-1	luminal epithelium:	n/a	n/a
2	BRCA1	chr3:134092282-134094562	Hela-S3	cervix:	n/a	n/a
3	CHD1	chr3:134070900-134094634	IMR90	lung:	n/a	chr3:134093783-134093793 chr3:134092557-134092567 chr3:134083055-134083065
4	SIN3A	chr3:134091883-134094577	H1-hESC	embryonic stem cell:	n/a	chr3:134093487-134093500 chr3:134093529-134093542
5	TFAP2C	chr3:134092025-134094581	Hela-S3	cervix:	n/a	chr3:134092572-134092587 chr3:134093979-134093988 chr3:134092550-134092565 chr3:134093841-134093856
6	ZNF263	chr3:134092051-134094542	HEK293-T-REx	kidney:	n/a	chr3:134093798-134093807 chr3:134093450-134093459
7	POLR2A	chr3:134080609-134094580	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:134079902-134094732	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF7L2	chr3:134091971-134094706	Hela-S3	cervix:	n/a	chr3:134093922-134093929 chr3:134093379-134093393
10	CHD2	chr3:134092360-134094552	Hela-S3	cervix:	n/a	chr3:134093783-134093793 chr3:134092557-134092567
11	SMARCB1	chr3:134091861-134094637	Hela-S3	cervix:	n/a	n/a
12	SMARCC2	chr3:134093075-134094582	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:134069355-134094620	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
2	chr3:134089711..134094738-chr3:134202793..134208651,12	MCF-7	breast:
3	chr3:133968058..133969986-chr3:134093152..134094854,2	MCF-7	breast:
4	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:

Variant related genes	Relation type
AMOTL2	TF binding region
ENSG00000182923	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000163785	Chromatin interaction
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1075815	1.00[EUR][1000 genomes]
rs57999379	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73863805	0.85[AMR][1000 genomes]
rs73863806	1.00[EUR][1000 genomes]
rs73863809	1.00[EUR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134091800-134094600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:134092600-134094600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr3:134093400-134094600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:134093400-134094600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:134093400-134094600	Flanking Active TSS	Colonic Mucosa	Colon
6	chr3:134093600-134094600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
7	chr3:134093600-134094600	Flanking Active TSS	Fetal Heart	heart
8	chr3:134093600-134094600	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr3:134093600-134094600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr3:134093600-134094600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr3:134093600-134094600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr3:134093600-134094600	Flanking Active TSS	NHEK	skin
13	chr3:134093600-134094800	Flanking Active TSS	Hela-S3	cervix
14	chr3:134093600-134095000	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr3:134093600-134095200	Flanking Active TSS	Liver	Liver
16	chr3:134093600-134095600	Enhancers	Small Intestine	intestine
17	chr3:134093800-134094600	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr3:134094000-134094600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:134094000-134094600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:134094000-134094600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:134094000-134094600	Enhancers	Fetal Brain Male	brain
22	chr3:134094000-134094600	Enhancers	Psoas Muscle	Psoas
23	chr3:134094000-134094800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr3:134094000-134094800	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr3:134094000-134095000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:134094000-134095000	Enhancers	Placenta	Placenta
27	chr3:134094000-134096000	Enhancers	Stomach Mucosa	stomach
28	chr3:134094000-134098000	Enhancers	Lung	lung
29	chr3:134094200-134094600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:134094200-134094600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:134094200-134094600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:134094200-134094600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr3:134094200-134094600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr3:134094200-134094600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:134094200-134094600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr3:134094200-134094600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:134094200-134094600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:134094200-134094600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr3:134094200-134094600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr3:134094200-134094600	Active TSS	Fetal Brain Female	brain
41	chr3:134094200-134094600	Enhancers	Fetal Muscle Trunk	muscle
42	chr3:134094200-134094600	Enhancers	Right Atrium	heart
43	chr3:134094200-134094800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:134094200-134094800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr3:134094200-134094800	Enhancers	Brain Cingulate Gyrus	brain
46	chr3:134094200-134094800	Enhancers	Brain Hippocampus Middle	brain
47	chr3:134094200-134094800	Enhancers	Brain Substantia Nigra	brain
48	chr3:134094200-134094800	Enhancers	Fetal Lung	lung
49	chr3:134094200-134094800	Enhancers	Gastric	stomach
50	chr3:134094200-134095000	Flanking Active TSS	A549	lung

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