Variant report

Variant	rs2173448
Chromosome Location	chr3:134087342-134087343
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	POLR2A	chr3:134086773-134094473	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:134086779-134088527	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:134087308-134087718	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr3:134086772-134094312	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr3:134086769-134091751	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:134086781-134089740	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr3:134086746-134088516	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:134079921-134092871	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr3:134081387-134089755	HUVEC	blood vessel:	n/a	n/a
10	CHD1	chr3:134070900-134094634	IMR90	lung:	n/a	chr3:134093783-134093793 chr3:134092557-134092567 chr3:134083055-134083065
11	POLR2A	chr3:134081290-134088706	SK-N-SH	brain:	n/a	n/a
12	CEBPB	chr3:134087276-134087593	HepG2	liver:	n/a	chr3:134087394-134087405
13	POLR2A	chr3:134071087-134094366	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:134084882-134093800	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr3:134071303-134093679	HepG2	liver:	n/a	n/a
16	ATF2	chr3:134087318-134088023	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:134086789-134089780	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr3:134086770-134089017	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr3:134086643-134087722	MCF10A-Er-Src	breast:	n/a	n/a
20	MAZ	chr3:134085077-134094456	IMR90	lung:	n/a	chr3:134092343-134092353 chr3:134093443-134093453 chr3:134087585-134087594
21	USF2	chr3:134087235-134087435	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:134074967-134094367	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr3:134080043-134092973	A549	lung:	n/a	n/a
24	POLR2A	chr3:134080609-134094580	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:134085086-134089605	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr3:134079902-134094732	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:134082043-134088613	U87	brain:	n/a	n/a
28	POLR2A	chr3:134080444-134091779	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr3:134082478-134087651	U87	brain:	n/a	n/a
30	POLR2A	chr3:134086786-134094411	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:134069355-134094620	IMR90	lung:	n/a	n/a
32	POLR2A	chr3:134083318-134094139	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:134085828..134088665-chr3:134170796..134172844,2	MCF-7	breast:
2	chr3:134087277..134089419-chr3:134195150..134197422,2	MCF-7	breast:
3	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
4	chr3:134086152..134088581-chr3:134189583..134191121,2	MCF-7	breast:
5	chr3:134087226..134089802-chr3:134191337..134194305,2	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11925583	1.00[EUR][1000 genomes]
rs2400272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35161002	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56874024	1.00[EUR][1000 genomes]
rs59473547	1.00[EUR][1000 genomes]
rs60048996	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6798709	1.00[EUR][1000 genomes]
rs7433301	1.00[EUR][1000 genomes]
rs7623024	1.00[EUR][1000 genomes]
rs7629849	1.00[EUR][1000 genomes]
rs7643419	1.00[TSI][hapmap];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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134069200-134090000	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr3:134069400-134089800	Genic enhancers	Fetal Muscle Leg	muscle
3	chr3:134070400-134088200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:134071000-134088800	Enhancers	Right Atrium	heart
5	chr3:134072200-134090200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:134072400-134091200	Genic enhancers	Spleen	Spleen
7	chr3:134072800-134090600	Genic enhancers	Left Ventricle	heart
8	chr3:134073000-134089400	Genic enhancers	HMEC	breast
9	chr3:134073400-134091400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:134074400-134089400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:134075000-134090400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:134076800-134088600	Genic enhancers	NHDF-Ad	bronchial
13	chr3:134077600-134088000	Genic enhancers	NH-A	brain
14	chr3:134078800-134090400	Genic enhancers	Liver	Liver
15	chr3:134079400-134089600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:134081400-134090600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:134081600-134091000	Enhancers	Psoas Muscle	Psoas
18	chr3:134082000-134089800	Genic enhancers	Placenta Amnion	Placenta Amnion
19	chr3:134082000-134090800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:134082000-134090800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:134082000-134091000	Genic enhancers	Fetal Stomach	stomach
22	chr3:134082200-134090200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:134082200-134092800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:134082400-134091400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:134082800-134088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:134083000-134087800	Genic enhancers	Muscle Satellite Cultured Cells	--
27	chr3:134083000-134088400	Genic enhancers	Right Ventricle	heart
28	chr3:134083000-134088600	Genic enhancers	NHLF	lung
29	chr3:134083000-134089400	Genic enhancers	Colon Smooth Muscle	Colon
30	chr3:134083200-134089600	Genic enhancers	Placenta	Placenta
31	chr3:134083400-134089200	Genic enhancers	NHEK	skin
32	chr3:134083600-134087800	Genic enhancers	Osteobl	bone
33	chr3:134083600-134089000	Genic enhancers	HSMMtube	muscle
34	chr3:134083600-134089800	Genic enhancers	Brain Angular Gyrus	brain
35	chr3:134083600-134090000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:134083600-134090800	Genic enhancers	Fetal Intestine Large	intestine
37	chr3:134083800-134087600	Genic enhancers	Adipose Nuclei	Adipose
38	chr3:134083800-134087800	Genic enhancers	HSMM	muscle
39	chr3:134083800-134088000	Genic enhancers	Gastric	stomach
40	chr3:134083800-134088400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr3:134083800-134088800	Genic enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:134083800-134090000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:134084000-134087800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:134084000-134088400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:134084000-134089000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:134084000-134090000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:134084000-134090200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:134084000-134090200	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr3:134084000-134090800	Genic enhancers	Lung	lung
50	chr3:134084200-134088400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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